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
Xeroderma pigmentosum, group D	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
variant du xeroderma pigmentosum	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Holoprosencephaly and postaxial polydactyly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome d'hypospadias-déficience intellectuelle type Goldblatt	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Ichthyosis cheek eyebrow syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ichthyosis cheek eyebrow syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Limb body wall complex (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Upper limb defect with eye and ear abnormalities syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Upper limb defect with eye and ear abnormalities syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Mullerian duct and limb anomalies syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Mullerian duct and limb anomalies syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Odontoma dysphagia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Short stature with valvular heart disease and characteristic facies syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pili torti with developmental delay and neurological abnormality syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Steinfeld syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Steinfeld syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Familial hypospadias of penis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
spectre ostéolyse multicentrique-nodulose-arthropathie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
spectre ostéolyse multicentrique-nodulose-arthropathie	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Syndromic recessive X-linked ichthyosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Trisomy 10p (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Trisomy 10p (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Microcephaly with deafness and intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Deafness with cataract and skeletal anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Shprintzen Goldberg omphalocele syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Shprintzen Goldberg omphalocele syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	10
Trisomy 17p (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Biliary atresia with splenic malformation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Central serous retinopathy with pit of optic disc	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Heide syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Deafness with malformation of ear and facial palsy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Keratoderma hereditarium mutilans with ichthyosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Isolated congenital alacrima (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Koolen De Vries syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Punctate palmoplantar keratoderma type 1 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Hereditary palmoplantar keratoderma Gamborg Nielsen type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Syndromic hypoplasia of orbital border (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
X-linked reticulate pigmentary disorder with systemic manifestation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Contracture with ectodermal dysplasia and orofacial cleft syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Harrod syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Harrod syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
X-linked lissencephaly with abnormal genitalia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Lissencephaly syndrome Norman Roberts type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Cooks syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Metatarsus adductus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Talipes calcaneovarus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Harrod syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Lissencephaly syndrome Norman Roberts type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Solitary aortic trunk with pulmonary atresia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital abnormality of iris and ciliary body	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
anomalie morphologique congénitale du pied	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital cataract with intellectual disability and anal atresia and urinary defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Autosomal dominant centronuclear myopathy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital rearfoot valgus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital forefoot valgus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Epidermolysis bullosa simplex due to plakophilin deficiency (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Epidermolysis bullosa simplex with circinate migratory erythema (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Schisis association syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Enlarged parietal foramina (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Partial defect of atrioventricular canal (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Partial defect of atrioventricular canal (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Fetal iodine syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Wolf Hirschhorn syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Congenital suprabulbar paresis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Epidermolysis bullosa simplex with pyloric atresia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Camptodactyly with joint contracture and facial skeletal defect syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Autosomal dominant diffuse palmoplantar keratoderma Norrbotten type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Unilateral polymicrogyria (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Sonoda syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Sonoda syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
3C syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
3C syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
3C syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
3C syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Bethlem myopathy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Congenital retraction of eyelid (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Familial median cleft of upper and lower lip (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Hydrocephalus with cleft palate and joint contracture syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	10
Annular epidermolytic ichthyosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Oro-facial digital syndrome type 9 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Oro-facial digital syndrome type 9 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Oro-facial digital syndrome type 9 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	9
Oro-facial digital syndrome type 11 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	9
Oro-facial digital syndrome type 11 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	10

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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