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ICD-10 coding rules for rare diseases

1. ceeee eee 9 Il Coding indication only tenace aie tt ati lada lt al 10 Ill Codes not to be used men patat ini na ia sua or alei tn ll 10 Decisions for specific groups of diseases sccessscccssseccssscccsscecessscccsseeceessceeesees 10 l TUMOUR E NR E NE EA RR IRA RARE 10 ll SS ITS URTV S tt nn ital lt i ta la a 11 Ill Cancer predisposing syndromes aaa 11 IV Mitochondrial diseases sie peae ionita ata ii mat a i to ac le sue 11 V Chromosomal microdeletions and microduplications c nenea 12 VI Cerebellar malformations seen ian la da i ea aia oda a all i ei 12 VII Joubert syndrome with or without other involvement cc0cceceeeeees 12 VIII Spinocerebellar ataxias nic vaccatie patesti atare abat acea canada rol lac ri a 12 IX Hereditary sensory and autonomic neuropathies e eee 12 X Congenital bile acid synthesis defects eee eee eeeeeeeneeeeee 12 XI Congenital disorders of glycosylation c eee eee eeeeeeeeeeeeee 12 XII Susceptibility to infections ie asa ieste oaia so cad coala aia cai ba da 12 XIII Distal arthir Gary posesia p otre ea a nr nica oa aere ete eo 12 ICD 10 coding rules for rare diseases Procedural Document y General points l Purpose This document aims to define how rare diseases in the Orphanet database are attributed a code in the World Heath Organization s International Classification of Diseases 10th edition ICD 10
2. II Reference documents International Statistical Classification of Diseases and Related Health Problems e 10th Revision searchable on the WHO online browser for the 2010 version in English the URL is http apps who int classifications icd10 browse 2010 en e List of Official ICD 10 Updates PDF files with the ICD 10 updates endorsed by the WHO over the years URL http www who int classifications icd icd10updates en e Linearization principles a description of the rules followed to establish the lineari zation rules applied to Orphanet s classifications of rare diseases lll Range of application The ICD 10 coding of Orphanet diseases is managed by a dedicated information scientist under responsibility of the scientific direction IV Definitions The ICD 10 defines three levels of terms associated with ICD 10 codes to represent their range of application main terms inclusion terms index terms A main term is the primary identification of an ICD 10 code It is displayed in bold letters beside the code in the ICD 10 tabulated list An inclusion term is a term associated to an ICD 10 code to precise its range and use It is dis played in the ICD 10 tabulated list in plain letters under the code and main term It can be a syno nym of the main name a subtype of the disease represented by main name or a specific disease subsumed under a code aiming to represent a group of diseases as a whole An index term has the same purpose
3. in cystic fibrosis P75 o Excl meconium obstruction in cases where cystic fibrosis is known not to be present P76 0 e 84 8 Cystic fibrosis with other manifestations o Cystic fibrosis with combined manifestations e 84 9 Cystic fibrosis unspecified In such instances the entity is to be coded in the Orphanet database by the whole set of possible four character codes rather than by the single three character code The rationale for this choice is to direct coders using Orphanet as a reference towards one of the four character codes that they must actually use The use of a three character code remains possible when there is no further subdivision in ICD 10 e g ORPHA924 Acanthosis nigricans represented by L83 Acanthosis nigricans because there are no four character codes for this disease 6 ICD 10 coding rules for rare diseases Procedural Document VII Entities not mentioned in ICD 10 Many rare diseases are not mentioned at all in ICD 10 even as an index term The coder must therefore interpret the ICD 10 to find the most appropriate representation The selection of the appropriate code is largely contextual However two kinds of criteria can most often be followed e the position of the entity within the Orphanet classifications of rare diseases e the linearization selected for the entity Codes can be considered as heritable by default throughout Orphanet classifications This means that if a disease is mentioned in
4. ICD 10 its coding will be inherited by all its subtypes unless the ICD 10 explicitly tells otherwise E g ORPHA685 Hereditary spastic paraplegia is coded G11 4 Hereditary spastic paraplegia The code G11 4 is also used for the subentities e ORPHA102012 Pure hereditary spastic paraplegia o ORPHA100980 Autosomal dominant pure spastic paraplegia o ORPHA100982 Autosomal recessive pure spastic paraplegia o ORPHA320332 X linked pure spastic paraplegia e ORPHA102013 Complex hereditary spastic paraplegia o ORPHA98888 X linked complex spastic paraplegia o ORPHA100979 Autosomal dominant complex spastic paraplegia o ORPHA100981 Autosomal recessive complex spastic paraplegia o ORPHA320360 Maternally inherited spastic paraplegia e ORPHA320335 Pure or complex hereditary spastic paraplegia o ORPHA320342 Pure or complex autosomal dominant spastic paraplegia o ORPHA320346 Pure or complex autosomal recessive spastic paraplegia o ORPHA320350 Pure or complex X linked spastic paraplegia and all subtypes of hereditary spastic paraplegia identified by numbers further down in the hierarchy By extension if a group of diseases can be coded by a precise ICD 10 code e g ORPHA98473 Muscular dystrophy exactly matches G71 0 Muscular dystrophy all subordinate entities can be presumed to be coded the same This rule must however be mitigated by the fact that many rare disease entities are classified under several parents It is then necessary to choose whi
5. al information must in fact be taken into account to code the case properly By contrast associating the A24 1 A24 2 A24 3 and A24 4 codes will allow to retrieve effec tively cases of melioidosis as a whole from medical records This representation of a single Orphanet entity by a defined set of ICD 10 codes defines for typing ICD 10 coding rules for rare diseases Procedural Document purposes the BTNT type of coding see later This possibility for multiple coding is extended to groups of diseases when they can be repre sented accurately and comprehensively E g ORPHA1047 Sideroblastic anemia is represented by the following ICD 10 codes e D64 0 Hereditary sideroblastic anaemia e D64 1 Secondary sideroblastic anaemia due to disease e D64 2 Secondary sideroblastic anaemia due to drugs and toxins e D64 3 Other sideroblastic anaemias Using D64 Other anaemias and would be very imprecise VI Entities representable by a three character ICD 10 code Some entities have a good match with a three character code with specific manifestations fur ther represented in ICD 10 by subdivision into four character codes For instance ORPHA49 Cys tic fibrosis matches E84 Cystic fibrosis which is further subdivided as follows E84 Cystic fibrosis Incl mucoviscidosis e 84 0 Cystic fibrosis with pulmonary manifestations e 84 1 Cystic fibrosis with intestinal manifestations o Distal intestinal obstruction syndrome o Meconium ileus
6. ame E g ORPHA98503 Motor neuron disease is not an exact match of G12 2 Motor neuron disease even if the labels are the same The ICD 10 entity excludes inherited spinal mus cular atrophies whereas the Orphanet entry includes them ll Typing the ICD 10 term level The level of the ICD terms associated with the ICD 10 code that match the Orphanet entity is also precised by the following annotations e Specific code the Orphanet entity is matched by an ICD main term This is normally associated with exact matches e Inclusion term the Orphanet entity is not matched at ICD main term level but only at the ICD inclusion term level e Index term the Orphanet entity is not matched at ICD main term or inclusion term level but only at the ICD index term level e Attributed term the Orphanet entity has no matching term at all in ICD 10 Inter preting the ICD 10 is required to assign a code lll Validating the codings Once one or several codes are assigned to a disease the coder must specify in the database whether the codings are validated or not yet validated Validated means that the coding is regarded as sure Not yet validated means that the coding is provisional and must be checked by a medical ex pert Using the codings l Coding indication and retrieval of medical records Codes associated to a disease by an exact match typed as E can be used e to check which ICD 10 code must be used to represent the disease
7. ch parent in the Orphanet classification has priority this is done according to the Orphanet linearization Structural groups in the Orphanet classification that are used only for clarity without their own content must be excluded from the heritability rule This covers expecially the groups named Syndrome with some sign or symptome ICD 10 coding rules for rare diseases Procedural Document 7 E g ORPHA98683 Syndrome with a symptomatic strabismus tells too little about the su bordinated entities to warrant their coding as strabismus The codings of the subordinated entities will be various e g e ORPHA480 Kearns Sayre syndrome gt H49 8 Other paralytic strabismus as inclusion term e ORPHA908 Fragile X syndrome gt Q99 2 Fagile X chromosome e ORPHA861 Treacher Collins syndrome gt Q75 4 Mandibulofacial dysostosis as inclusion term e ORPHA199 Cornelia de Lange syndrome gt Q87 8 Congenital malformation syn dromes predominantly associated with short stature as inclusion term e ORPHA506 Leigh syndrome gt Q31 8 Other specified degenerative diseases of ner vous system as inclusion term e etc B Typing the codings The Orphanet database uses the following annotating system for entries to precise the nature of the correspondance with the associated ICD code or the several associated codes l Typing the matching between concepts e Exact match shorthand E the Orphanet entity and the ICD 10 c
8. e secreting tumours can be coded both as a tumour and as the endocrine disorder caused by their secretion In such cases both codes are added into the database with the mapping typed ND For instance ORPHA2965 Prolactinoma is coded both D35 2 Benign neoplasm Pituitary gland and 22 1 Hyperprolactinaemia lll Cancer predisposing syndromes No explicit representation is available in ICD 10 They are coded like the relevant cancer with the mapping typed ND IV Mitochondrial diseases A few are mentioned as inclusion terms e g Leigh syndrome Kearns Sayre syndrome but most of them are not and are generally problematic because of their multisystemic involve ment The only relatively generic code for a mitochondrial disease is G71 3 Mitochondrial myopathy not elsewhere classified It can be used by default for all mitochondrial myopathies non expli citly mentioned in ICD 10 In other instances the code must be attributed according to the predominant involvement Using the following is recommanded e predominantly encephalopathic use G31 8 Other specified degenerative diseases of nervous system e encephalomyopathies with cerebral malformations Fukuyama muscular dystrophy muscle eye brain disease use Q04 8 Other specified malformations of brain e predominantly cardiomyopathic 142 2 Other hypertrophic cardiomyopathy e clinics dominated by metabolic anomalies use E88 8 Other specified metabolic disorders e noclear p
9. eas they are less detailed in Orphanet Coding an instance of such diseases properly requires additional information compared with the range of Orphanet entry In such cases it is useful to provide the whole set of codes that can be used to represent the disease at large according to the context However this possibility of multiple coding should normally be used only when the union of all codes represents the disease accurately There is one important exception the coding of tumours Codes for tumours always lack specificity because they are intended only to indicate location and behaviour in a very general way Rare tumours often have to be represented with a set of general codes Most often but not always the set of ICD 10 codes will is a series of four character codes under a heading which is too generic compared with the Orphanet entity E g ORPHA31202 Melioidosis is represented by the following ICD 10 codes e A24 1 Acute and fulminating melioidosis e A24 2 Subacute and chronic melioidosis e A24 3 Other melioidosis e A24 4 Melioidosis unspecified Coding by the whole upper code A24 would result in a loss of specificity because A24 is described Glanders and melioidosis A24 0 is used to refer specifically to glanders and the refore subsumes melioidosis with another disease Coding with A24 4 Melioidosis unspecified would exclude all cases that in practice are specified and suggest a single coding possibility whereas addition
10. es l Tumours Orphanet entities for tumours are a systemic challenge to ICD 10 coding because their defini tion is primarily based on morphology while ICD 10 uses tumoral behaviour malignant benign uncertain or unknown then topography as defining criteria and uses the additional CD O Inter national Classification of Diseases for Oncology to represent morphology The ICD 10 coding of Orphanet tumour entities will first depend of their behaviour then on their topography If the tumour is usually benign with only rare cases of malignant transformation the code for the benign tumour can be used alone If the tumour has a high potential for malignant transformation the code for the malignant tumour can be used alone In other instances using two or three codes to represent possible behaviours malignant be nign uncertain or unknown may be more helpful This is sometimes explicitly warranted by ICD 10 10 ICD 10 coding rules for rare diseases Procedural Document E g Thymoma is represented in ICD 10 by two index terms e Thymoma benign is ascribed to the code D15 0 Benign neoplasm of other and uns pecified intrathoracic organs Thymus e Thymoma malignant is ascribed to the code C37 Malignant neoplasm of thymus Most ICD 10 codes for rare tumours are established by the information network RARECARENet Surveillance of Rare Cancers in Europe as part of their and Orphanet s collaboration II Secreting tumours Som
11. in medical records e conversely to retrieve cases of the disease from medical records for instance to ICD 10 coding rules for rare diseases Procedural Document 9 establish statistics using the ICD 10 code Since the relation between the disease and the code is exact such information can be retrieved in an easy precise and reliable way Codes associated to a disease by a broad to narrow relation typed as BTNT also allow both those uses though less directly e they give a hint towards the appropriate ICD 10 codes available for representing the disease in medical records However additional information is required to choose which code must precisely be selected e cases of the disease can be retrieved from medical records for instance to establish statistics putting together the full set of selected ICD 10 codes BTNT mappings are allowed in the database only when this ll Coding indication only When the relation of the code to the disease is of a narrow to broad type NTBT the code can be used as a coding hint only It is not possible in those instances to retrieve precise disease data from medical records using ICD 10 codes because the code s scope extends to other if related conditions III Codes not to be used Codes typed as wrong W must evidently not be used at all They are hidden to users and only kept in the database to be later corrected by its managing team E Decisions for specific groups of diseas
12. ode have the same range of application they describe the same pathological entity e Narrow term to broad term shorthand NTBT the Orphanet entity has a narrower range than the ICD 10 code used to represent it e Broad term to narrow term shorthand BTNT the Orphanet entity has a broader range than the ICD 10 code used to represent it In practice this type of coding is only used when an Orphanet entity most often groups of diseases or infectious diseases can be exactly represented by a set of ICD 10 codes See before e Not yet decided unable to decide shorthand ND reserved for for complex cases when the mapping cannot be qualified by any of the preceding labels e Wrong match shorthand W reserved for coding errors with correction pending Matchings are done on a semantic rather than syntactic basis they relate to the concept asso ciated to the Orphanet entity not with the name used to identify that concept A discrepancy of names does not preclude an exact match if the ranges of the Orphanet entity and the ICD 10 code are intended to be the same 8 ICD 10 coding rules for rare diseases Procedural Document E g ORPHA 98878 Hemophilia A is coded by D66 Hereditary factor VIII deficiency and this is an exact match Conversely similar names in ICD 10 and Orphanet do not automatically point to an exact match the concepts must be screened in their hierarchical environment to check whether they are actually the s
13. orohanet October 2014 ICD 10 coding rules for rare diseases Procedural document 2 E Table of contents Table of contents cainii dincei oile z dai pol ceai it d cela ee tic 2 General Points saci asia motan me ai a ai et n Ri e at avi ed a aa aa aie 3 l PUN OSC asset matii ama ati eu Su st at na pl lan be 3 Il Reference documents nenea eee 3 lll Range of application 4 as imam aaa ai n od teal ea ti 3 IV DEPIND sto ein oe ice sac la lia lui peltic i tiv ini 3 Attribunng the CODES cs acte c i Dai mt ri lada a ce n tai 4 ICD 10 reference version eeee aa aaa aaa 4 II Default rule priority to any ICD 10 mention ceea 4 III Default rule use single codes ceea eaaae 4 IV Double coding by the dagger and asterisk system eeee eee 4 V Entities representable by a set of ICD 10 codes nene eeeeeeeee 5 VI Entities representable by a three character ICD 10 code 6 VII Entities not mentioned in ICD 10 eee nene neeeeeeneeeeeea 7 Typing Ee ONG E tuia acolade i and cu aaa ga a aia 8 Typing the matching between concepts ceea 8 II Typing the ICD 10 term level aaa n anna 9 IIl Validating the codings svvins ccnsnscecscasnancradiwsrecansandenieasedectdnedearsavesabinsininnncendented 9 Usine the coding A PRIN RR RRDP AR RI PRR AN RONI RI ROI A PR III PI Sp 9 Coding indication and retrieval of medical records
14. otein metabolism XII Susceptibility to infections To be coded as immunodeficiencies not as infections Often appropriately coded by D84 8 Other specified immunodeficiencies XIII Distal arthrogryposes To be coded Q68 8 Other specified congenital musculoskeletal deformities ICD 10 coding rules for rare diseases Procedural Document Please note that all data presented n this report are available for download at Orphadata For any questions or comments please contact us contact orphanet inserm fr Editors in chief Ana Rath e Editor Bertrand Bellet e Visual design Julie Christ The correct form when quoting this document is Orphanet ICD 10 coding rules for rare diseases Orphanet procedural document Reports collection September 2014 http www orpha net orphacom cahiers docs GB ICDcodingRulesProcedure pdf ICD 10 coding rules for rare diseases Procedural Document 13
15. r rare diseases There are nevertheless a number of exceptions that are described below IV Double coding by the dagger and asterisk system The system of a main code with a dagger associated to a secondary code with an asterisk has been introduced in ICD 9 and maintained in ICD 10 to represent several cases when two approaches are useful The ICD 10 user manual lists the following uses of this system local manifestation of a generalized disease especially infections functional activity and consequences of endocrine tumours the organic cause of a mental or behavioural disorder a toxic or pharmacologic cause of disease e atraumatic cause of disease ICD 10 coding rules for rare diseases Procedural Document Such double codes are allowed only when the possibility is explicitly afforded by the ICD 10 A secondary asterisk code can be used only in association with a primary dagger code The dagger and asterisk system is used when relevant to code Orphanet entities E g ORPHA137586 Herpes simplex virus keratitis is coded by the association of e B00 5 Herpesviral ocular disease e H19 1 Herpesviral keratitis and keratoconjunctivitis V Entities representable by a set of ICD 10 codes It may happen that the ICD 10 provides several contextual codes when Orphanet only has a gene ral entity This is not infrequent especially with infectious diseases which have for historical and practical reasons very detailed ICD 10 codes wher
16. redominance use E88 8 Other specified metabolic disorders ICD 10 coding rules for rare diseases Procedural Document 11 12 V Chromosomal microdeletions and microduplications For all of them not explicitly mentioned in ICD 10 use e Q92 3 Minor partial trisomy for microduplications e Q93 5 Other deletions of part of a chromosome for microdeletions VI Cerebellar malformations Not mentioned in ICD 10 They must by necessity be coded with Q04 8 Other specified congeni tal malformations of brain however incorrect it is to refer to the cerebellum as brain VII Joubert syndrome with or without other involvement All forms are to be coded Q04 3 Other reduction deformities of brain VIII Spinocerebellar ataxias The ICD 10 structure under G11 Hereditary ataxia is based on the age of onset e G11 0 Congenital nonprogressive ataxia e G11 1 Early onset cerebellar ataxia Note Onset usually before the age of 20 e G11 2 Late onset cerebellar ataxia Note Onset after before the age of 20 The various types in Orphanet are defined mostly genetically the age of onset can be variable and the genotype phenotype correlations are not good IX Hereditary sensory and autonomic neuropathies To be coded G60 8 Other hereditary and idiopathic neuropathies X Congenital bile acid synthesis defects To be coded K76 8 Other specified diseases of liver XI Congenital disorders of glycosylation To be coded E77 8 Other disorders of glycopr
17. than an inclusion term but is found only in the ICD 10 alphbetic index It is not displayed in the ICD 10 tabulated list ICD 10 coding rules for rare diseases Procedural Document 3 4 E Attributing the codes 1 ICD 10 reference version The coding of rare diseases in Orphanet by ICD 10 codes is based on the 2010 online version of the ICD 10 but takes into account the official WHO updates endorsed in 2011 and 2012 II Default rule priority to any ICD 10 mention Any explicit mention from the ICD 10 has priority over internal decisions even if the ICD 10 dis positions are deemed to be inaccurate E g Progeria is an inclusion term of 34 8 Other specified endocrine disorders Therefore ORPHA740 Hutchinson Gilford progeria syndrome must be coded E34 8 even if it is not correct to describe it as an endocrine disease III Default rule use single codes The general rule is to represent diseases by a single ICD 10 code whether the published ICD 10 mentions the disease or not In particular when the ICD 10 does not mention the disease and therefore needs to be interpre ted the most significant involvement must be selected meaning the one e corresponding to the most severely affected body system e most determining for the prognosis e whose specialist is most likely to be relied on for disease management The selection of the most significant involvement should generally be consistent with the Orpha net linearization fo

ICD-10 coding rules for rare diseases

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