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

2848101000005119 kongenit anomali da Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Danish module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
kongenit anomali	Is a	Morphologically abnormal structure	false	Inferred relationship	Some
kongenit anomali	Is a	dysgenese	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Komplet underudvikling af overekstremitet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Delvis underudvikling af overekstremitet	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Acrosyndactyly of thumb (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Acrosyndactyly of the fingers	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Hitch-hiker thumb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Underudvikling af tommelfinger	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Hypoplasia of thumb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital abnormality of lower limb and pelvic girdle	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital abnormality of lower limb and pelvic girdle	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Duplication of whole lower limb (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Duplication of whole lower limb (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Duplication of femur	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Duplication of femur	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Duplication of tibia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Duplication of tibia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Duplication of fibula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Duplication of fibula	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Duplication of tarsal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Duplication of tarsal bone	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Duplication of the whole foot	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Duplication of the whole foot	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital overgrowth of partial lower limb (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital undergrowth of partial lower limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital undergrowth of partial lower limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital leg bone bowing	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
kongenit klikkende hofteled	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Dislocatable hip	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Subluxatable hip	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital deformity of foot and ankle	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Transverse deficiency of toe	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Transverse deficiency of toe	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Transverse deficiency of toe	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Rudimentært ben	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Phocomelia of lower limb	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Agenesis of multiple metatarsal bones	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital anomaly of foot	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Perodaktyli	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital sternomastoid tumour	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Unicoronal craniosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Bicoronal craniosynostosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Cloverleaf skull syndrome (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital abnormality of skull shape	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Hemifacial microsomia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Craniofacial microsomia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Bilateral craniofacial microsomia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital absence of spine	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital sacrococcygeal anomaly	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Congenital malformation of sternum (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Trichorhinophalangeal dysplasia type I	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Osteopetrosis - intermediate type (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Osteopetrosis with renal tubular acidosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Oculodento-osseous dysplasia - mild type	Associated morphology	False	kongenit anomali	Inferred relationship	Some	4
Ichthyosis vulgaris	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Autosomal dominant ichthyosis vulgaris	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Severe ichthyoses	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Erythrodermic lamellar ichthyosis (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Non-erythrodermic lamellar ichthyosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Autosomal dominant lamellar ichthyosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
ikke-bulløs iktyosiform erytrodermi	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Bulløs iktyose	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Bullous ichthyosiform erythroderma	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Localised bullous ichthyosiform erythroderma	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Ichthyosis bullosa of Siemens	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
A rare type of keratinopathic ichthyosis characterised by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma. The skin is usually normal at birth. The disease starts in early childhood with severe hyperkeratosis of yellow-brown or grey colour, and of spiky, cobblestone-like (hystrix) or verrucous appearance. Contrary to other keratinopathic ichthyoses, no skin fragility/blister formation or erythroderma is present. The disease results from heterozygous frameshift mutation in a section of the KRT1 gene encoding keratin 1 (K1). These mutations lead to an abnormal supramolecular organisation of keratin intermediate filaments and may be related to defects in cytoplasmic trafficking and integrity of cellular structures such as organelles and nucleus. Transmission is autosomal dominant but some sporadic cases have been reported.	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Ichthyosis hystrix Bäfverstedt type (disorder)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Ichthyosis hystrix gravior, Rheydts type	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Ichthyosis hystrix med døvhed	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Pindsvinemenneske	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Epidermolysis bullosa simplex with hypodontia	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Epidermolysis bullosa simplex herpetiformis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Epidermolysis bullosa simplex with mottled pigmentation	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Epidermolysis simplex superficialis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Ukompliceret bulløs epidermolyse med neuromuskulær sygdom	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Lethal autosomal recessive epidermolysis bullosa simplex	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Dystrophic epidermolysis bullosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Localised dystrophic epidermolysis bullosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Localised recessive dystrophic epidermolysis bullosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Generalized dystrophic epidermolysis bullosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Generalized recessive dystrophic epidermolysis bullosa mitis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Transient neonatal bullous dermatosis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Localised junctional epidermolysis bullosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Inverse junctional epidermolysis bullosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Progressive junctional epidermolysis bullosa (neurotrophic)	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Generalized junctional epidermolysis bullosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Junctional epidermolysis bullosa mitis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Cicatricial junctional epidermolysis bullosa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
De Sanctis-Cacchione syndrome	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Congenital vascular naevus	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Reticulate vascular nevus	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Nevus sanguineous	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Mixed haemangioma	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Salmon patch naevus	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Nevus of Ota	Associated morphology	False	kongenit anomali	Inferred relationship	Some
Inherited disorder of keratinization	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Erythrokeratoderma	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Hereditary erythrokeratolysis	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Hereditary follicular keratoses	Associated morphology	False	kongenit anomali	Inferred relationship	Some	2
Familial dyskeratotic comedones	Associated morphology	False	kongenit anomali	Inferred relationship	Some	3
Inherited cutis laxa	Associated morphology	False	kongenit anomali	Inferred relationship	Some	1
Neonatal cutis laxa with marfanoid phenotype (disorder)	Associated morphology	False	kongenit 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
2848101000005119	kongenit anomali	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)