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1162984000: X-linked dominant hereditary disease (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 30-Sep 2021. Module: SNOMED CT core module

Descriptions:

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


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 Existential restriction modifier

Inbound Relationships Type Active Source Characteristic Refinability Group
Chondrodysplasia punctata, X-linked dominant type Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked dominant chondrodysplasia Chassaing Lacombe type Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Skeletal dysplasia brachydactyly syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked Charcot-Marie-Tooth disease type 6 Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Microphthalmia with linear skin defect syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Brain anomaly, severe intellectual disability, ectodermal dysplasia, skeletal deformity, ear anomaly, kidney dysplasia syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Otopalatodigital syndrome spectrum disorder Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked Charcot-Marie-Tooth disease type 1 Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
2-methyl-3-hydroxybutyric aciduria Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked reticulate pigmentary disorder with systemic manifestation syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked scapuloperoneal muscular dystrophy Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability Atkin type Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Aicardi's syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Alport syndrome X-linked Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Calcium/calmodulin-dependent serine protein kinase related intellectual disability Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Craniofrontonasal dysplasia Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Fragile X syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Focal dermal hypoplasia Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Familial infantile gigantism Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Fragile X associated tremor ataxia syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Incontinentia pigmenti syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Chloride voltage-gated channel 4-related X-linked intellectual disability syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked female restricted facial dysmorphism, short stature, choanal atresia, intellectual disability Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Lisch epithelial corneal dystrophy Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Nance-Horan syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Oculofaciocardiodental syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Syndactyly, telecanthus, anogenital and renal malformation syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Torticollis, keloids, cryptorchidism, renal dysplasia syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked congenital generalized hypertrichosis Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked immunoneurologic disorder Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability with cerebellar hypoplasia syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability-psychosis-macroorchidism syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
Adrenoleukodystrophy Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked dominant erythropoietic protoporphyria Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier
X-linked intellectual disability, hypotonia, movement disorder syndrome Is a True X-linked dominant hereditary disease Inferred relationship Existential restriction modifier

This concept is not in any reference sets

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