107656002: Congenital anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Congenital anomaly	est un(e) (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Erythrodermic lamellar ichthyosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Non-erythrodermic lamellar ichthyosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal dominant lamellar ichthyosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Non-bullous ichthyosiform erythroderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bullous ichthyosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Bullous ichthyosiform erythroderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Localised bullous ichthyosiform erythroderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis bullosa of Siemens	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis hystrix of Curth-Macklin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
maleformatio ectodermalis generalisata de Bafverstedt	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis hystrix gravior of Rheydt	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Porcupine man	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa simplex with hypodontia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa simplex herpetiformis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa simplex with mottled pigmentation	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis simplex superficialis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa simplex with neuromuscular disease	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Localised dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Localised recessive dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Generalised recessive dystrophic epidermolysis bullosa mitis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Transient neonatal bullous dermatosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Inverse junctional epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Progressive junctional epidermolysis bullosa (neurotrophic)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Generalized junctional epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Junctional epidermolysis bullosa mitis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cicatricial junctional epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
De Sanctis-Cacchione syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital vascular naevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Reticulate vascular nevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Nevus sanguineous	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Mixed haemangioma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Salmon patch naevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Nevus of Ota	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Inherited disorder of keratinization	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Erythrokeratoderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary erythrokeratolysis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary follicular keratoses	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Familial dyskeratotic comedones	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Inherited cutis laxa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cutis laxa, recessive, type I	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cutis laxa, recessive, type II	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital morphological disturbances of hair	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome des cheveux incoiffables	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital wooly hair (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital ringed hair	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Marie Unna syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital enlarged nails	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aplasia of skin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Familial focal facial dermal dysplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital retraction of nipple	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Neurofibromatosis, type 3	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Ash leaf spot, tuberous sclerosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Shagreen patch	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Basal cell nevus with comedones	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital livedo reticularis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Blue rubber bleb naevus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Verrucous hemangioma of skin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Cavernous lymphangioma of skin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital giant pigmented nevus of skin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
nævus d'Ota	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Vitellointestinal band	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Epoophoron	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Persistent Gartner's duct	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Mullerian remnant	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital coronary artery fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Centralisation carpus correction for radial club hand	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Correction of congenital absence of radius	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Proximal femoral osteotomy for correction of congenital dislocation of the hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some
Pelvic osteotomy for congenital dislocation of the hip	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
libération des articulations du tarse pour la correction d'une anomalie morphologique congénitale d'un pied	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Osteotomy of body of os calcis for correction congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Wedge tarsectomy for correction congenital deformity of foot	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Correction of curly fifth toe	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital absence of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital non bullous ichthyosiform erythroderma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital ptosis of upper eyelid	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Congenital abnormality of liver and/or biliary tract (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Displaced uterus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fusion of labia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fusion of labia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Unilateral undescended testis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
cryptorchidie bilatérale	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Indeterminate sex and pseudohermaphroditism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie congénitale des os du crâne et du visage	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
torticolis congénital	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Constriction ring of upper limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Constriction ring of upper limb with lymphedema	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of nipple	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Localised congenital skull defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital instability of hip joint	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital varus deformities of foot	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Intrauterine amputation of upper limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Aberrant intrinsic muscles of hand	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Meningomyelocele/myelocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital malformation of ovaries and fallopian tubes	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
561791000077117	anomalie congénitale (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core