21390004: Developmental anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2021. Module: SNOMED CT core

Descriptions:

Expanded Value Set

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

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cleft of hard palate and cleft lip (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Parkes Weber syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Cleft palate and bilateral cleft lip (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Cleft of soft palate and cleft lip (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Oromandibular-limb hypogenesis spectrum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Cleft hard and soft palate with cleft lip	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Manifest-latent nystagmus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Lethal tight skin contracture syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cleft of soft palate and bilateral cleft lip (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital diverticulum of esophagus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Anomaly of eye (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
macrodactylie de la main	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital valgus deformity of foot	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Talipes calcaneovalgus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Talipes planovalgus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital malposition of talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital vertical talus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital convex pes valgus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital varus ankle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital valgus ankle	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital rearfoot valgus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital forefoot valgus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Talipes equinocavovarus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital thickening of radius	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital thickening of tibia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital thickening of ulna	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital pulmonary arteriovenous aneurysm	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Neurofibromatosis Noonan syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital thickening of tarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Fetal varicella syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
fossette préauriculaire	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Nicolaides-Baraitser syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome oto-onycho-péronéal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
syndrome oto-onycho-péronéal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
syndrome oto-onycho-péronéal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
syndrome oto-onycho-péronéal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Embryopathy caused by phenobarbital (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
McDonough syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Delayed membranous cranial ossification (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Naxos disease	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Naxos disease	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Ophthalmomandibulomelic dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Ophthalmomandibulomelic dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Autosomal recessive distal osteolysis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Pituitary stalk interruption syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Lissencephaly type 1 due to doublecortin gene mutation (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Acrocallosal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Autosomal recessive distal osteolysis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Acrocallosal syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
malformation glomuveineuse	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Waardenburg syndrome co-occurrent with Hirschsprung disease (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Goniodysgenesis with intellectual disability and short stature syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Phocomelia Schinzel type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Diabetic embryopathy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
X-linked retinal dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Neurofibromatosis Noonan syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
lissencéphalie type 1 inexpliquée	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
dysplasie cranio-fronto-nasale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Craniotelencephalic dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Acromelic frontonasal dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Embryofetopathy caused by indomethacin (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de polydactylie en miroir-segmentation vertébrale-anomalies des membres	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Desmin related myopathy with Mallory body-like inclusions (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Ischio-vertebral syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Deafness craniofacial syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
syndrome améloonychohypohidrotique	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	10
Crane Heise syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Crane Heise syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Seaver Cassidy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Seaver Cassidy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Seaver Cassidy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Congenital ptosis of upper eyelid	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Congenital myogenic ptosis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Familial isolated arrhythmogenic right ventricular dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pseudoaminopterin syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Pseudoaminopterin syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Fetal diethylstilbestrol syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Maxillonasal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Dyssegmental dysplasia with glaucoma syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Lowry Yong syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	10
Cataract with aberrant oral frenula and growth delay syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Frontofacionasal dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Xeroderma pigmentosum, group B	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Non-neurologic xeroderma pigmentosum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pigmented xerodermoid	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Xeroderma pigmentosum, group C	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Xeroderma pigmentosum, group G	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Xeroderma pigmentosum, group F	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
xeroderma pigmentosum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Xeroderma pigmentosum, group E (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Xeroderma pigmentosum, group D	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2

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Id	Description	Lang	Type	Status	Case?	Module
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
183282017	Developmental anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190336012	Developmental malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190337015	Developmental defect	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190338013	Dysgenesis	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190339017	Anomalous formation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190340015	Abnormal development	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
190341016	Malformation	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
64781000077117	anomalie du développement	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
686791000077119	anomalie du développement (anomalie morphologique)	fr	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Common French translation module (core metadata concept)
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core