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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 pterygium colli, verstandelijke handicap en misvorming van digiti
syndroom van pterygium colli, mentale retardatie en misvorming van digiti
syndroom van Khalifa-Graham
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
referentieset met complexe 'mapping' naar ICD-10
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