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:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Congenital anomaly	est un(e) (attribut)	structure anormale sur le plan morphologique	false	Inferred relationship	Some
Congenital anomaly	est un(e) (attribut)	Developmental abnormality	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Congenital fiber type disproportion myopathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
syndrome du nourrisson mou (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Talipes equinovarus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Anorectal anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Radioulnar synostosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome de Marshall (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Adult junctional epidermolysis bullosa	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital coxa valga	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of hand (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Dimelia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
myopathie à corps zébrés (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital anomaly of upper alimentary tract	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Lamellar ichthyosis AND trichorrhexis invaginata syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hanhart's syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome de Nager (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Abnormal communication between pericardial sac and pleura	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Infantile uterus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Nevus comedonicus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie congénitale de l'ongle (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Fibrous skin tumour of tuberous sclerosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Xeroderma pigmentosum, group G	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Calculus of bile duct with cholecystitis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Transverse deficiency of lower limb	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Lethal glossopharyngeal defect	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Hepatomphalocele	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	5
Known OR suspected fetal spina bifida with myelomeningocele affecting obstetrical care	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital uterine anomaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cyst of periodontal tissue (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Functional asplenia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Oculodentodigital syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Congenital anomaly of ovary	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Uterus arcuatus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	4
Congenital anomaly of appendix	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Scapulopexy	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	3
syndrome tricho-dento-osseux (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
brachyphalangie	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Epidermolysis bullosa simplex of the hands and feet	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Subungual fibroma	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
prépuce redondant	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital depression in skull	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Infantile malignant osteopetrosis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Macrocolon	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Spina bifida without hydrocephalus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
syndrome de Mietens (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
pancréas annulaire (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
incontinentia pigmenti	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
nævus en tache de vin (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Supernumerary tooth (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital absence of forearm with hand AND fingers	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Pseudocryptorchism	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hepatomegaly	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Naevus anaemicus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Langer-Giedion syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Congenital abnormality of uterus, affecting pregnancy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital oesophagobronchial fistula	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Macrodactyly of toe (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Uterus acollis	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
porokératose actinique superficielle disséminée	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Glycogen storage disease type VIII	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of genital organ	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Paraumbilical hernia with gangrene AND obstruction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	9
Congenital varus deformity of foot	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Cochleate uterus	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Eruption cyst of jaw (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
syndrome oto-palato-digital type 2 (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
Xeroderma pigmentosum, group F	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Islet cell hyperplasia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
myopathie congénitale à "central cores" (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Sarcotubular myopathy	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Modified Johanson operation for claw toe with arthrodesis	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	1
épidermolyse bulleuse dystrophique évolutive autosomique récessive	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
brachydactylie	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Calculus of bile duct with acute cholecystitis with obstruction	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
anomalie congénitale de l'appareil génital masculin	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Cholesterol monooxygenase (side-chain cleaving) deficiency	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
syndrome de Dubin-Johnson	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
xeroderma pigmentosum	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Keratoderma punctata	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Moynahan's syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
Congenital cardiospasm	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Ruvalcaba-Myhre syndrome	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Reconstruction of toe for macrodactyly with bone resection	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Calculus of bile duct with obstruction (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2
maladie de von Hippel-Lindau (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Female infertility due to structural congenital anomaly of vagina (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Severe X-linked myotubular myopathy (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital anomaly of pancreas	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital duplication of gallbladder	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital hiatus hernia	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	3
anomalie congénitale des canaux biliaires	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Congenital leukonychia (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
raccourcissement congénital d'une jambe	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Naso-palatine duct cyst (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Acrocephaly (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Meckel's diverticulitis (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Closure of cleft hand (procedure)	Direct morphology	False	Congenital anomaly	Inferred relationship	Some	2
Metatarsus varus (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
Recessive dystrophic epidermolysis bullosa (disorder)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	1
naevus d'Ito (trouble)	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some
kératose folliculaire de Darier	morphologie associée (attribut)	False	Congenital anomaly	Inferred relationship	Some	2

Start Previous Page 13 of 124 Next End

Reference Sets

Concept inactivation indicator reference set

Description inactivation indicator reference set

GB English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

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
280471000077112	anomalie congénitale	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
561791000077117	anomalie congénitale (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
593259012	Congenital anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core