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1162984000: X-linked dominant hereditary disease (disorder)

Status: current, Primitive. Date: 30-Sep 2021. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
4592777013 X-linked dominant hereditary disease (disorder) en Fully specified name Active Case sensitive SNOMED CT core
4592778015 X-linked dominant hereditary disease en Synonym Active Case sensitive SNOMED CT core

46 descendants. Search Descendants:

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
X-linked dominant hereditary disease Is a X-linked hereditary disease true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Chondrodysplasia punctata, X-linked dominant type Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked dominant chondrodysplasia Chassaing Lacombe type Is a True X-linked dominant hereditary disease Inferred relationship Some
Mononen Karnes Senac syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 6 Is a True X-linked dominant hereditary disease Inferred relationship Some
Microphthalmia with linear skin defect syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
BRESEK syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
Otopalatodigital syndrome spectrum disorder Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked Charcot-Marie-Tooth disease type 1 Is a True X-linked dominant hereditary disease Inferred relationship Some
2-methyl-3-hydroxybutyric aciduria Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked reticulate pigmentary disorder with systemic manifestation syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked scapuloperoneal muscular dystrophy Is a True X-linked dominant hereditary disease Inferred relationship Some
Atkin Flaitz syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
Aicardi's syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
Alport syndrome X-linked Is a True X-linked dominant hereditary disease Inferred relationship Some
CASK related intellectual disability Is a True X-linked dominant hereditary disease Inferred relationship Some
Craniofrontonasal dysplasia Is a True X-linked dominant hereditary disease Inferred relationship Some
Fragile X syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
Focal dermal hypoplasia Is a True X-linked dominant hereditary disease Inferred relationship Some
Familial infantile gigantism Is a True X-linked dominant hereditary disease Inferred relationship Some
Fragile X associated tremor ataxia syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
Incontinentia pigmenti syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
CLCN4-related X-linked intellectual disability syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True X-linked dominant hereditary disease Inferred relationship Some
Lisch epithelial corneal dystrophy Is a True X-linked dominant hereditary disease Inferred relationship Some
Nance-Horan syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
Oculofaciocardiodental syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked congenital generalised hypertrichosis Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked immunoneurologic disorder Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked intellectual disability-psychosis-macroorchidism syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some
Adrenoleucodystrophy Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked dominant erythropoietic protoporphyria Is a True X-linked dominant hereditary disease Inferred relationship Some
X-linked intellectual disability, hypotonia, movement disorder syndrome Is a True X-linked dominant hereditary disease Inferred relationship Some

Reference Sets

Clinical finding foundation reference set

Problem/Diagnosis reference set

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