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:

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

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

27811000052119 kongenital anomali sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenital anomali	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some
kongenital anomali	Is a	utvecklingsabnormitet	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
underväxt av hel arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
underväxt av del av arm	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acrosyndactyly of thumb (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Acrosyndactyly of the fingers	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hitch-hiker thumb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
underväxt av tumme	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hypoplasia of thumb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of lower limb and pelvic girdle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of lower limb and pelvic girdle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication of whole lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication of whole lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of femur	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of femur	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication of tibia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of tibia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication of fibula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of fibula	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication of tarsal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of tarsal bone	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Duplication of the whole foot	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Duplication of the whole foot	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital overgrowth of partial lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital undergrowth of partial lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital undergrowth of partial lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital leg bone bowing	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
medfödd knäppande höft	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dislocatable hip	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Subluxatable hip	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital deformity of foot and ankle	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Transverse deficiency of toe	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Transverse deficiency of toe	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Transverse deficiency of toe	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
rudimentär nedre extremitet	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Phocomelia of lower limb	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Agenesis of multiple metatarsal bones	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital abnormality of foot and toes (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
perodaktyli	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital sternomastoid tumour	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Unicoronal craniosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Bicoronal craniosynostosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Cloverleaf skull syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital abnormality of skull shape	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hemifacial microsomia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Craniofacial microsomia	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bilateral craniofacial microsomia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital absence of spine	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital sacrococcygeal anomaly (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Congenital malformation of sternum	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Osteopetrosis - intermediate type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Oculodento-osseous dysplasia - mild type	Associated morphology	False	kongenital anomali	Inferred relationship	Some	4
Ichthyosis vulgaris	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal dominant ichthyosis vulgaris	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Severe ichthyoses	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Erythrodermic lamellar ichthyosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Non-erythrodermic lamellar ichthyosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Autosomal dominant lamellar ichthyosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
icke-bullös iktyosiform erytrodermi	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
bullös iktyos	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Bullous ichthyosiform erythroderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Localised bullous ichthyosiform erythroderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis bullosa of Siemens	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis hystrix of Curth-Macklin	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Maleformatio ectodermalis generalisata of Bafverstedt (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Ichthyosis hystrix gravior of Rheydt	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hystrix ichthyosis with deafness	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Porcupine man	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Epidermolysis bullosa simplex with hypodontia (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Epidermolysis bullosa simplex herpetiformis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Epidermolysis bullosa simplex with mottled pigmentation (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Epidermolysis simplex superficialis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
epidermolysis bullosa simplex med neuromuskulär sjukdom	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Localised dystrophic epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Localised recessive dystrophic epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Generalised recessive dystrophic epidermolysis bullosa mitis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Transient neonatal bullous dermatosis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Inverse junctional epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Progressive junctional epidermolysis bullosa (neurotrophic)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Generalized junctional epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Junctional epidermolysis bullosa mitis (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Cicatricial junctional epidermolysis bullosa	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
De Sanctis-Cacchione syndrome	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Congenital vascular naevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Reticulate vascular nevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Nevus sanguineous	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Mixed haemangioma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Salmon patch naevus	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Nevus of Ota	Associated morphology	False	kongenital anomali	Inferred relationship	Some
Inherited disorder of keratinisation	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Erythrokeratoderma	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hereditary erythrokeratolysis	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Hereditary follicular keratoses	Associated morphology	False	kongenital anomali	Inferred relationship	Some	2
Familial dyskeratotic comedones	Associated morphology	False	kongenital anomali	Inferred relationship	Some	3
Inherited cutis laxa (disorder)	Associated morphology	False	kongenital anomali	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype	Associated morphology	False	kongenital anomali	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
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
27811000052119	kongenital anomali	sv	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Sweden NRC maintained module (core metadata concept)