syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie (aandoening) DEPRECATED
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke beperking en faciale dysmorfie
syndroom van osteopenie, myopie, gehoorverlies, mentale retardatie en faciale dysmorfie
syndroom van osteopenie, myopie, gehoorverlies, verstandelijke handicap en faciale dysmorfie
Osteopenia, myopia, hearing loss, intellectual disability, facial dysmorphism syndrome
This syndrome has characteristics of severe hypertelorism, brachycephaly, abnormal ears, sloping shoulders, enamel hypoplasia, osteopenia with frequent fractures, severe myopia, mild to moderate sensorineural hearing loss and mild intellectual deficit. It has been described in two brothers born to first-cousin parents. No chromosomal anomalies were detected. Transmission appears to be autosomal recessive or X-linked.
Id722111004
StatusPrimitive
Concept inactivation indicator reference set900000000000483008 | obsoleet component | (2022-06-30)
REPLACED BY association reference set773622005 | syndroom van craniofaciale dysplasie en osteopenie | (2022-06-30)
DHD Diagnosis thesaurus reference set
RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set
TargetQ87.5
TermOverige congenitale gestoorde-ontwikkelingssyndromen met overige skeletveranderingen