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syndroom van pterygium colli, verstandelijke beperking en misvorming van digiti (aandoening)
syndroom van pterygium colli, verstandelijke beperking en misvorming van digiti
syndroom van Khalifa-Graham
syndroom van pterygium colli, verstandelijke handicap en misvorming van digiti
syndroom van pterygium colli, mentale retardatie en misvorming van digiti
Pterygium colli with intellectual disability and digital anomaly syndrome
Khalifa Graham syndrome
This syndrome has characteristics of pterygium colli, digital anomalies and craniofacial abnormalities. Digital anomalies include abnormal small thumbs, widened interphalangeal joints, and broad terminal phalanges. Craniofacial abnormalities include brachycephaly, epicanthic folds, angulated eyebrows, upward slanting of the palpebral fissures, ptosis, hypertelorism, prominent low-set and posteriorly rotated ears. It has been described in a woman and her son, but the manifestations were much less severe in the mother. The son also had intellectual deficit. The inheritance is either X-linked dominant or autosomal dominant.
Id719256004
StatusPrimitive
Associated morphologycongenitale webbing
Finding sitestructuur van huid van hals
Occurrencecongenitaal
Pathological processproces van pathologische ontwikkeling
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.0
TermCongenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan
SNOMED CT to Orphanet simple map2988
SNOMED CT to ICD-10 extended map
TargetQ87.0
RuleTRUE
AdviceALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION
CorrelationSNOMED CT source code to target map code correlation not specified