107656002: Congenital anomaly (morphologic abnormality)

Status: retired, Primitive. Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

172092016 Congenital anomaly en Synonym Active Case insensitive SNOMED CT core

593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Case insensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Some
Congenital anomaly	Is a	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Erythrodermic lamellar ichthyosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Non-erythrodermic lamellar ichthyosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Autosomal dominant lamellar ichthyosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Non-bullous ichthyosiform erythroderma	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Bullous ichthyosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Bullous ichthyosiform erythroderma	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Localised bullous ichthyosiform erythroderma	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis bullosa of Siemens	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis hystrix of Curth-Macklin	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Maleformatio ectodermalis generalisata of Bafverstedt	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Ichthyosis hystrix gravior of Rheydt	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Porcupine man	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa simplex with hypodontia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa simplex herpetiformis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa simplex with mottled pigmentation	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis simplex superficialis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Epidermolysis bullosa simplex with neuromuscular disease	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Localised dystrophic epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Localised recessive dystrophic epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Generalised dystrophic epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Generalised recessive dystrophic epidermolysis bullosa mitis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Transient neonatal bullous dermatosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Inverse junctional epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Progressive junctional epidermolysis bullosa (neurotrophic)	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Generalised junctional epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Junctional epidermolysis bullosa mitis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Cicatricial junctional epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
De Sanctis-Cacchione syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Congenital vascular naevus	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Reticulate vascular naevus	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Naevus sanguineous	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Mixed haemangioma	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	3
Salmon patch naevus	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Naevus of Ota	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Inherited disorder of keratinisation	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Erythrokeratoderma	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary erythrokeratolysis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Hereditary follicular keratoses	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Familial dyskeratotic comedones	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	3
Inherited cutis laxa	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Cutis laxa, recessive, type I	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital morphological disturbances of hair	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Uncombable hair syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital woolly hair	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital ringed hair	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Marie Unna syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital enlarged nails	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Aplasia of skin	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Familial focal facial dermal dysplasia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital retraction of nipple	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Neurofibromatosis type 3	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	3
Ash leaf spot, tuberous sclerosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Shagreen patch	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Basal cell naevus with comedones	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Congenital livedo reticularis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Blue rubber bleb naevus	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Verrucous haemangioma of skin	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Cavernous lymphangioma of skin	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Congenital giant pigmented naevus of skin	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Oculocutaneous melanocytic naevus	Associated morphology	False	Congenital anomaly	Inferred relationship	Some
Vitellointestinal band	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Epoophoron	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Persistent Gartner's duct	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Mullerian remnant	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital coronary artery fistula	Associated morphology	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
Release of pantalar joints for correction congenital deformity of foot	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 complete absence of lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	2
Congenital non bullous ichthyosiform erythroderma	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital ptosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	3
Congenital abnormality of liver and/or biliary tract	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Displaced uterus	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fusion of labia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital fusion of labia	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	4
Unilateral undescended testis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Undescended testes - bilateral	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Indeterminate sex and pseudohermaphroditism	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital torticollis	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Constriction ring of upper limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Constriction ring of upper limb with lymphoedema	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Hypoplasia of nipple	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Localised congenital skull defect	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital instability of hip joint	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital varus deformities of foot	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Intrauterine amputation of upper limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Aberrant intrinsic muscles of hand	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Meningomyelocele/myelocele	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomalies of ovaries and fallopian tubes	Associated morphology	False	Congenital anomaly	Inferred relationship	Some	1

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Reference Sets

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Id	Description	Lang	Type	Status	Case?	Module
172092016	Congenital anomaly	en	Synonym	Active	Case insensitive	SNOMED CT core
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Case insensitive	SNOMED CT core