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
Neonatal cutis laxa with marfanoid phenotype	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cutis laxa, recessive, type I	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Cutis laxa, recessive, type II	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital morphological disturbances of hair	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Uncombable hair syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital wooly hair (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital ringed hair	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Marie Unna syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital enlarged nails	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Aplasia of skin	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Familial focal facial dermal dysplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital retraction of nipple	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Neurofibromatosis type 3	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Ash leaf spot, tuberous sclerosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Shagreen patch	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Basal cell nevus with comedones	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Congenital livedo reticularis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Blue rubber bleb naevus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Verrucous hemangioma of skin	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Cavernous lymphangioma of skin	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
naevus congenitalis giganticus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Oculocutaneous melanocytic naevus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Vitellointestinal band	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Epoophoron (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Persistent Gartner's duct	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Mullerian remnant	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital coronary artery fistula	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Centralisation carpus correction for radial club hand	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Correction of congenital absence of radius	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Proximal femoral osteotomy for correction of congenital dislocation of the hip	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Pelvic osteotomy for congenital dislocation of the hip	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Release of pantalar joints for correction congenital deformity of foot	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Osteotomy of body of os calcis for correction congenital deformity of foot	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Wedge tarsectomy for correction congenital deformity of foot	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Correction of curly fifth toe	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital complete absence of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital non bullous ichthyosiform erythroderma	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital ptosis (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital abnormality of liver and/or biliary tract (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Displaced uterus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital fusion of labia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital fusion of labia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
unilateraal niet-ingedaalde testis (situatie)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Undescended testes - bilateral	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Indeterminate sex and pseudohermaphroditism	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital abnormality of skull and face bones	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital torticollis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Constriction ring of upper limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Constriction ring of upper limb with lymphedema	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Hypoplasia of nipple	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Localised congenital skull defect	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital instability of hip joint	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital varus deformities of foot	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Intrauterine amputation of upper limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Aberrant intrinsic muscles of hand	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Meningomyelocele/myelocele	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital malformation of ovaries and fallopian tubes	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital clubbing	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Curry-Hall syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Trichodental syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Laryngo-onychocutaneous syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some
Schprintzen	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Combined malformation of central nervous system and skeletal muscle (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Muscle eye brain disease	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Transverse deficiency lower limb - knee level	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital abnormality of nipple	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Tubule of epoophoron	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duct of epoophoron	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Vesicular appendix of ovary	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Paroophoron	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Tubule of paroophoron	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Vestigial gastrointestinal remnant	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Acquired renal arteriovenous fistula	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	4
Congenital inversion of nipple	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Weber-Cockayne syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duodenal web	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Reducible umbilical hernia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital deformity of foot (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Congenital broncho-esophageal fistula without atresia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital absence, atresia and stenosis of large intestine	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Embryonic cyst of fallopian tube	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital extension contracture of the knee	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Transverse deficiency of hand	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Transverse arrest metacarpal second to fifth rays (disorder)	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital absence of multiple toes	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duplication of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Duplication of lower limb	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Hereditary splenic hypoplasia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Paratubal cyst arising in mesonephric duct	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Correction of thumb duplication	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	2
Common bile duct calculus	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Division of constricting band on limb	Direct morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Brachydactyly of hand	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Synbrachydactyly of hand	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Brachyphalangia of toe	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Brachyphalangia of toe	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital penoscrotal transposition	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Netherton's syndrome	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Strangulated paraumbilical hernia	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	3
Congenital dysgenetic ptosis	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1
Congenital rectocloacal fistula	Associated morphology	False	congenitale anomalie (afwijkende morfologie)	Inferred relationship	Some	1

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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)