107656002: congenitale anomalie (afwijkende morfologie)

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
congenitale anomalie (afwijkende morfologie)	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some
congenitale anomalie (afwijkende morfologie)	Is a	gebrekkige ontwikkeling (afwijkende morfologie)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Acquired myelocele	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
malleolaire endotorsie (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
malleolaire exotorsie	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital forefoot varus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital rearfoot varus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital talipes calcaneus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Pulmonary tuberous sclerosis (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
McCauley operation	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Conical supernumerary tooth	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Tuberculate supernumerary tooth	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Lip pits	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Commissural lip pits	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Midline sinus of the upper lip	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Gelman operation	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Tracheo-esophageal fistula without atresia of esophagus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Familial absence of villi	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital disorder of gallbladder and biliary tract	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Ichthyosis congenita with biliary atresia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Retained bile duct stone	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Bile duct leakage	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Polycystic disease of pancreas	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital malformation of pancreas	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cystic fibrosis of pancreas	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Strangulated umbilical hernia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital umbilical defect	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Evans operation	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital familial idiopathic priapism	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital abnormality of scrotum	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Bifid scrotum	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Turco operation	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital anomaly of bone and joint	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Goldner operation	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Bone and joint malformation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Linear porokeratosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Giant porokeratosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Disseminated superficial porokeratosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Acrokerato-elastoidosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Howel-Evans' syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Porokeratosis of Mantoux	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Generalised essential telangiectasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Genodermatosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Familial multiple tumor syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail-sweating defect	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Hypohidrotic X-linked ectodermal dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Roselli-Gulienetti ectodermal dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Alopecia, onychodysplasia, hypohidrosis, deafness ectodermal dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Basan syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Greither type of ectodermal dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Tricho-onychodental dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth-nail defects	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Schoepf-Schulz-Passage syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Odonto-onychial dysplasia with alopecia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Fried's tooth and nail syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Dermodental dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Salamon's syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Ectodermal dysplasia, syndactyly and pili torti	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Dwarfism, alopecia, pseudoanodontia, cutis laxa	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Hypohidrosis-diabetes insipidus syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Ectodermal dysplasia with hair-tooth defects	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Odontotrichomelic syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Orofacial-digital syndrome III	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Orofacial-digital syndrome IV	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Berlin syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Ectodermal dysplasia with hair-nail defect	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Tricho-oculodermovertebral syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Curly hair, ankyloblepharon, nail dysplasia syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Kirman syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Ectodermal dysplasia with tooth-nail defects	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Dento-oculocutaneous syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Ectodermal dysplasia with tooth-sweating defect	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Sandman-Andra syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Ectodermal dysplasia with nail defect	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Triphalangeal thumbs with onychodystrophy	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Ectodermal dysplasia with sweating defect	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Hypohidrosis with neurolabyrinthitis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Alopecia, nail dystrophy, ophthalmic complications, thyroid dysfunction, hypohidrosis, ephelides, enteropathy and respiratory tract infections	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Multiple benign annular creases of extremities	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Reticulate pigmented anomaly of flexures	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hereditary clubbing	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Flynn-Aird syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Cutaneous syndrome with ichthyosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Keratitis ichthyosis and deafness syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Atypical ichthyosis vulgaris with hypogonadism	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Keratosis pilaris with ichthyosis and deafness	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Erythrokeratoderma progressiva of Gottron	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Keratolytic winter erythema	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Keratolysis exfoliativa	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hereditary palmoplantar keratoderma	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Palmoplantar keratoderma transgrediens	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Acroerythrokeratoderma	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Progressive palmoplantar keratoderma of Greither	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Epidermolytic palmoplantar keratoderma of Vorner	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital palmoplantar and perioral keratoderma of Olmsted	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Circumscribed palmoplantar keratoderma	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
keratoderma met pachyonychia congenita (aandoening)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Palmoplantar keratoderma with leukoplakia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Palmoplantar hyperkeratosis sclerodactyly syndrome (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Keratoderma with mental retardation and spastic paraplegia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Papuloverrucous palmoplantar keratoderma of Jakac-Wolf	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Inherited cutaneous hyperpigmentation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Normal variation in cutaneous pigmentation	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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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
1190181000146119	aangeboren afwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1190191000146117	congenitale anomalie (afwijkende morfologie)	nl	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)
1829111000146118	congenitale anomalie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Netherlands NRC maintained module (core metadata concept)