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255399007: Congenital (qualifier value)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
380598010 Congenital en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
380599019 Congenita en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
646433016 Congenital (qualifier value) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Congenital Is a Periods of life false Inferred relationship Some
Congenital Is a Fetal and/or neonatal period true Inferred relationship Some
Inbound Relationships Type Active Source Characteristic Refinability Group
Carpal-tarsal osteolysis with nephropathy Occurrence False Congenital Inferred relationship Some
Winchester syndrome Occurrence False Congenital Inferred relationship Some
Torg type osteolysis Occurrence False Congenital Inferred relationship Some
Familial expansile osteolysis Occurrence False Congenital Inferred relationship Some
Ichthyosis vulgaris Occurrence False Congenital Inferred relationship Some
Autosomal dominant ichthyosis vulgaris Occurrence False Congenital Inferred relationship Some
Severe ichthyoses Occurrence False Congenital Inferred relationship Some
Erythrodermic lamellar ichthyosis Occurrence False Congenital Inferred relationship Some
Non-erythrodermic lamellar ichthyosis Occurrence False Congenital Inferred relationship Some
Autosomal dominant lamellar ichthyosis Occurrence False Congenital Inferred relationship Some
Non-bullous ichthyosiform erythroderma Occurrence False Congenital Inferred relationship Some
Bullous ichthyosis Occurrence False Congenital Inferred relationship Some
Bullous ichthyosiform erythroderma Occurrence False Congenital Inferred relationship Some
Localised bullous ichthyosiform erythroderma Occurrence False Congenital Inferred relationship Some
Ichthyosis bullosa of Siemens Occurrence False Congenital Inferred relationship Some
Ichthyosis hystrix of Curth-Macklin Occurrence False Congenital Inferred relationship Some
Ichthyosis hystrix Bäfverstedt type (disorder) Occurrence False Congenital Inferred relationship Some
Ichthyosis hystrix gravior of Rheydt Occurrence False Congenital Inferred relationship Some
Hystrix ichthyosis with deafness Occurrence False Congenital Inferred relationship Some
Porcupine man Occurrence False Congenital Inferred relationship Some
Epidermolysis bullosa simplex with hypodontia (disorder) Occurrence False Congenital Inferred relationship Some
Epidermolysis bullosa simplex herpetiformis Occurrence False Congenital Inferred relationship Some
Epidermolysis bullosa simplex with mottled pigmentation (disorder) Occurrence False Congenital Inferred relationship Some
Epidermolysis simplex superficialis Occurrence False Congenital Inferred relationship Some
Epidermolysis bullosa simplex with neuromuscular disease Occurrence False Congenital Inferred relationship Some
Lethal autosomal recessive epidermolysis bullosa simplex Occurrence False Congenital Inferred relationship Some
Dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Localised dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Localised recessive dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Generalized dystrophic epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Generalised recessive dystrophic epidermolysis bullosa mitis Occurrence False Congenital Inferred relationship Some
Transient neonatal bullous dermatosis Occurrence False Congenital Inferred relationship Some
Localised junctional epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Inverse junctional epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Progressive junctional epidermolysis bullosa (neurotrophic) Occurrence False Congenital Inferred relationship Some
Generalized junctional epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
Junctional epidermolysis bullosa mitis (disorder) Occurrence False Congenital Inferred relationship Some
Cicatricial junctional epidermolysis bullosa Occurrence False Congenital Inferred relationship Some
De Sanctis-Cacchione syndrome Occurrence False Congenital Inferred relationship Some
Nevus of Ota Occurrence False Congenital Inferred relationship Some
Inherited disorder of keratinisation Occurrence False Congenital Inferred relationship Some
Erythrokeratoderma Occurrence False Congenital Inferred relationship Some
Hereditary erythrokeratolysis Occurrence False Congenital Inferred relationship Some
Hereditary follicular keratoses Occurrence False Congenital Inferred relationship Some
Familial dyskeratotic comedones Occurrence False Congenital Inferred relationship Some
Inherited cutis laxa (disorder) Occurrence False Congenital Inferred relationship Some
Neonatal cutis laxa with marfanoid phenotype Occurrence False Congenital Inferred relationship Some
Cutis laxa, recessive, type I Occurrence False Congenital Inferred relationship Some
Cutis laxa, recessive, type II Occurrence False Congenital Inferred relationship Some
Congenital alopecia with keratin cysts Occurrence True Congenital Inferred relationship Some 1
Hypotrichosis with keratosis pilaris and lentiginosis Occurrence False Congenital Inferred relationship Some
Congenital morphological disturbances of hair Occurrence False Congenital Inferred relationship Some
Uncombable hair syndrome Occurrence False Congenital Inferred relationship Some
Congenital wooly hair (disorder) Occurrence False Congenital Inferred relationship Some
Congenital ringed hair Occurrence False Congenital Inferred relationship Some
Marie Unna syndrome Occurrence False Congenital Inferred relationship Some
Congenital enlarged nails Occurrence False Congenital Inferred relationship Some
Aplasia of skin Occurrence False Congenital Inferred relationship Some
Familial focal facial dermal dysplasia Occurrence False Congenital Inferred relationship Some
Congenital retraction of nipple Occurrence False Congenital Inferred relationship Some
Neurofibromatosis type 3 Occurrence False Congenital Inferred relationship Some
Ash leaf spot, tuberous sclerosis Occurrence False Congenital Inferred relationship Some
Shagreen patch Occurrence False Congenital Inferred relationship Some
Congenital malformation caused by cytotoxic agents (disorder) Occurrence False Congenital Inferred relationship Some
Fetal benzodiazepine syndrome Occurrence False Congenital Inferred relationship Some
Fetal captopril/enalapril syndrome Occurrence False Congenital Inferred relationship Some
Fetal carbamazepine syndrome Occurrence False Congenital Inferred relationship Some
Fetal cocaine syndrome Occurrence False Congenital Inferred relationship Some
Fetal minoxidil syndrome (disorder) Occurrence False Congenital Inferred relationship Some
Fetal misoprostol syndrome Occurrence False Congenital Inferred relationship Some
Fetal primidone syndrome Occurrence False Congenital Inferred relationship Some
Fetal toluene syndrome Occurrence False Congenital Inferred relationship Some
Congenital malformation of anterior pituitary Occurrence False Congenital Inferred relationship Some
Congenital malformation of posterior pituitary Occurrence False Congenital Inferred relationship Some
Synchephalus twins Occurrence False Congenital Inferred relationship Some
Unbalanced translocation and insertion Occurrence False Congenital Inferred relationship Some
Partial trisomy 21 in Down's syndrome Occurrence False Congenital Inferred relationship Some
Partial trisomy 18 in Edward's syndrome Occurrence False Congenital Inferred relationship Some
Partial trisomy 13 in Patau's syndrome Occurrence False Congenital Inferred relationship Some
Whole chromosome trisomy meiotic nondisjunction (disorder) Occurrence False Congenital Inferred relationship Some
Whole chromosome trisomy - mitotic nondisjunction mosaicism Occurrence False Congenital Inferred relationship Some
Triploidy and polyploidy Occurrence False Congenital Inferred relationship Some
Deletion of part of autosome Occurrence False Congenital Inferred relationship Some
Balanced rearrangement and structural marker (disorder) Occurrence False Congenital Inferred relationship Some
Balanced translocation and insertion in normal individual Occurrence False Congenital Inferred relationship Some
Sex chromosome abnormality - female phenotype Occurrence False Congenital Inferred relationship Some
Turner's phenotype - ring chromosome karyotype Occurrence False Congenital Inferred relationship Some
Female with more than three X chromosomes (disorder) Occurrence False Congenital Inferred relationship Some
Mosaicism - lines with various numbers of X chromosomes Occurrence False Congenital Inferred relationship Some
Sex chromosome abnormality - male phenotype Occurrence False Congenital Inferred relationship Some
Male with structurally abnormal sex chromosome Occurrence False Congenital Inferred relationship Some
Male with sex chromosome mosaicism Occurrence False Congenital Inferred relationship Some
FRAXA Occurrence False Congenital Inferred relationship Some
FRAXE Occurrence False Congenital Inferred relationship Some
Peripheral congenital aneurysm Occurrence False Congenital Inferred relationship Some
Basal cell nevus with comedones Occurrence False Congenital Inferred relationship Some
Cobb's syndrome Occurrence False Congenital Inferred relationship Some
Bregeat's syndrome Occurrence False Congenital Inferred relationship Some
Congenital livedo reticularis Occurrence False Congenital Inferred relationship Some
Multiple progressive haemangiomata Occurrence False Congenital Inferred relationship Some
Unilateral segmental cavernous hemangioma Occurrence False Congenital Inferred relationship Some

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This concept is not in any reference sets

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