| syndroom van verstandelijke beperking, epileptische aanvallen, hypotonie en afwijkingen van oog en skelet (aandoening) | | syndroom van verstandelijke beperking, epileptische aanvallen, hypotonie en afwijkingen van oog en skelet | | congenitaal defect in glycosylering door PIGT-deficiëntie
syndroom van mentale retardatie, convulsies, hypotonie en afwijkingen van oog en skelet
syndroom van verstandelijke beperking, insulten, hypotonie en afwijkingen van oog en skelet
MCAHS type 3
syndroom van verstandelijke handicap, convulsies, hypotonie en afwijkingen van oog en skelet
| | Intellectual disability, seizures, hypotonia, ophthalmologic, skeletal anomalies syndrome | | MCAHS (multiple congenital anomalies, hypotonia, seizures syndrome) type 3
Congenital disorder of glycosylation due to PIGT (phosphatidylinositol glycan anchor biosynthesis class T) deficiency
Congenital disorder of glycosylation due to PIGT deficiency
| | A rare congenital disorder of glycosylation with characteristics of neonatal hypotonia, global development delay, developmental regress and severe to profound intellectual disability, infantile onset seizures that are initially associated with febrile episodes with subsequent transition to unprovoked seizures, impaired vision with esotropia and nystagmus, progressive cerebral and cerebellar atrophy, skeletal abnormalities (including brachycephaly, scoliosis, slender long bones, delayed bone age, pectus excavatum and osteopenia), inverted nipples and dysmorphic features including high and narrow forehead, frontal bossing, short nose, depressed nasal bridge, anteverted nares, high palate and wide open mouth consistent with facial hypotonia. Other features may include cardiac abnormalities (such as patent ductus arteriosus, atrial septal defects), urogenital abnormalities (such as nephrocalcinosis, urolithiasis), and low plasma concentration of alkaline phosphatase. There is evidence the disease is caused by homozygous or compound heterozygous mutation in the PIGT gene on chromosome 20q13. |
| | Id | 770755007 | | Status | Primitive |
| DHD Diagnosis thesaurus reference set |
| RIVM authorized national diagnosis thesaurus to ICD10 complex mapping reference set | | Target | Q87.8 | | Term | Overige gespecificeerde congenitale gestoorde-ontwikkelingssyndromen, niet elders geclassificeerd |
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| SNOMED CT to Orphanet simple map | 369837 |
| 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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