syndroom van trigonocefalie, kleine gestalte en ontwikkelingsachterstand (aandoening) | | syndroom van trigonocefalie, kleine gestalte en ontwikkelingsachterstand | | syndroom van Say-Meyer
| | Trigonocephaly, short stature, developmental delay syndrome | | Say Meyer syndrome
| | Syndrome with characteristics of short stature, trigonocephaly and developmental delay. It has been described in three males. Moderate intellectual deficit was reported in one of the males and the other two patients displayed psychomotor retardation. X-linked transmission has been suggested but autosomal recessive inheritance cannot be ruled out. |
| Id | 733066002 | 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 | 3369 |
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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