| syndroom van choanale atresie, agenesie van tepel, hypothyreoïdie, vertraagde puberteit en kleine gestalte (aandoening) | | syndroom van choanale atresie, agenesie van tepel, hypothyreoïdie, vertraagde puberteit en kleine gestalte | | syndroom van choanenatresie, athelie, hypothyroïdie, pubertas tarda en kleine lichaamslengte
KMT2D-gerelateerde choaneatresie, athelie, hypothyreoïdie, vertraagde puberteit en kleine lichaamslengte
| | Choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome | | KMT2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome
Lysine methyltransferase 2D-related choanal atresia, athelia, hypothyroidism, delayed puberty, short stature syndrome
| | A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by choanal atresia, athelia or hypoplastic nipples, branchial arch abnormalities, external ear malformations, hearing loss, thyroid abnormalities, delayed or absent pubertal development, and short stature. Developmental delay/intellectual disability are variably reported. |
| | Id | 1281843005 | | Status | Primitive |
| SNOMED CT to Orphanet simple map | 589856 |
| SNOMED CT to ICD-10 extended map | | Target | Q87.8 | | Rule | TRUE | | Advice | ALWAYS Q87.8 | 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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