107656002: Congenital anomaly (morphologic abnormality)

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

Descriptions:

Id Description Lang Type Status Case? Module

172092016 Congenital anomaly en Synonym Active Entire term case insensitive SNOMED CT core module

593259012 Congenital anomaly (morphologic abnormality) en Fully specified name Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Undergrowth of whole upper limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Undergrowth of partial upper limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Acrosyndactyly of thumb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Acrosyndactyly of the fingers	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Hitch-hiker thumb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Undergrowth of the thumb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Hypoplasia of thumb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of lower limb and pelvic girdle	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of lower limb and pelvic girdle	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Duplication of whole lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Duplication of whole lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Duplication of femur	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Duplication of femur	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Duplication of tibia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Duplication of tibia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Duplication of fibula	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Duplication of fibula	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Duplication of tarsal bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Duplication of tarsal bone	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Duplication of the whole foot	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Duplication of the whole foot	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital overgrowth of partial lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital undergrowth of partial lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital undergrowth of partial lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital leg bone bowing	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital clicking hip	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Dislocatable hip	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Subluxatable hip	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital deformity of foot and ankle	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Transverse deficiency of toe	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Transverse deficiency of toe	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Transverse deficiency of toe	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Rudimentary leg	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Phocomelia of the lower limb	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Agenesis of multiple metatarsal bones	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital abnormality of foot and toes	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Perodactylia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital sternomastoid tumor	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Unicoronal craniosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Bicoronal craniosynostosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Cloverleaf skull syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital abnormality of skull shape	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Hemifacial microsomia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Craniofacial microsomia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Bilateral craniofacial microsomia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital absence of spine	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital sacrococcygeal anomaly	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Congenital malformation of sternum	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Osteopetrosis - intermediate type	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Osteopetrosis with renal tubular acidosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Oculodento-osseous dysplasia - mild type	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	4
Ichthyosis vulgaris	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Autosomal dominant ichthyosis vulgaris	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Severe ichthyoses	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Erythrodermic lamellar ichthyosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Non-erythrodermic lamellar ichthyosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Autosomal dominant lamellar ichthyosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Non-bullous ichthyosiform erythroderma	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Bullous ichthyosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Bullous ichthyosiform erythroderma	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Localized bullous ichthyosiform erythroderma	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Ichthyosis bullosa of Siemens	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Ichthyosis hystrix of Curth-Macklin	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Ichthyosis hystrix Bäfverstedt type	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Ichthyosis hystrix gravior of Rheydt	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Hystrix ichthyosis with deafness	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Porcupine man	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Epidermolysis bullosa simplex with hypodontia	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Epidermolysis bullosa simplex herpetiformis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Epidermolysis bullosa simplex with mottled pigmentation	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Epidermolysis simplex superficialis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Epidermolysis bullosa simplex with neuromuscular disease	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Dystrophic epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Localized dystrophic epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Localized recessive dystrophic epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Generalized dystrophic epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Transient neonatal bullous dermatosis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Localized junctional epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Inverse junctional epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Progressive junctional epidermolysis bullosa (neurotrophic)	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Generalized junctional epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Junctional epidermolysis bullosa mitis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Cicatricial junctional epidermolysis bullosa	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
De Sanctis-Cacchione syndrome	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Congenital vascular nevus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Reticulate vascular nevus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier
Nevus sanguineous	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Mixed hemangioma	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Salmon patch nevus	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier
Nevus of Ota	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier
Inherited disorder of keratinization	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Erythrokeratoderma	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Hereditary erythrokeratolysis	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Hereditary follicular keratoses	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	2
Familial dyskeratotic comedones	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	3
Inherited cutis laxa	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1
Neonatal cutis laxa with marfanoid phenotype	Associated morphology	False	Congenital anomaly	Inferred relationship	Existential restriction modifier	1

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