| X-gebonden syndroom van colobomateuze microftalmie, microcefalie, verstandelijke beperking en kleine gestalte (aandoening) | | X-gebonden syndroom van colobomateuze microftalmie, microcefalie, verstandelijke beperking en kleine gestalte | | X-gebonden syndroom van colobomateuze microftalmie, microcefalie, mentale retardatie en kleine gestalte
X-gebonden syndroom van colobomateuze microftalmie, microcefalie, verstandelijke handicap en kleine gestalte
| | X-linked colobomatous microphthalmia, microcephaly, intellectual disability, short stature syndrome | | X-linked colobomatous microphthalmia, microcephaly, short stature, psychomotor retardation syndrome
| | A rare syndromic microphthalmia disorder with characteristics of microphthalmia with coloboma (which may involve the iris, ciliary body, choroid, retina and/or optic nerve), microcephaly, short stature and intellectual disability. Other eye abnormalities such as pendular nystagmus, esotropia and ptosis may also be present. Additional associated abnormalities include kyphoscoliosis, anteverted pinnae with minimal convolutions, diastema of the incisors and congenital pes varus. |
| | Id | 771148008 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.0 | | Term | Congenitale gestoorde-ontwikkelingssyndromen waarbij voornamelijk aangezicht is aangedaan |
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| SNOMED CT to Orphanet simple map | 431140 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.0 | | Rule | TRUE | | Advice | ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION | | Correlation | SNOMED CT source code to target map code correlation not specified |
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