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
Oro-facial digital syndrome type 11 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	10
Oro-facial digital syndrome type 11 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	11
Isolated cryptophthalmos (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Lissencephaly type 3 familial fetal akinesia sequence syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Lissencephaly type 3 metacarpal bone dysplasia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Oro-facial digital syndrome type 11 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	12
Mammary digital nail syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Oro-facial digital syndrome type 9 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Embryonic cyst of fallopian tube	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital extension contracture of the knee	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Transverse deficiency of hand	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Transverse arrest metacarpal second to fifth rays	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital absence of multiple toes	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Duplication of lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Paratubal cyst arising in mesonephric duct	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
dystrophie musculaire des ceintures autosomique dominante type 1B	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Zellweger-like syndrome without peroxisomal anomaly (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked intellectual disability Seemanova type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Syndromic X-linked intellectual disability type 11 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked intellectual disability Siderius type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked intellectual disability Stevenson type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
X-linked intellectual disability Stevenson type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
X-linked intellectual disability Stocco Dos Santos type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked intellectual disability Stoll type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked intellectual disability Pai type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked intellectual disability Miles Carpenter type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked intellectual disability Armfield type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked intellectual disability Abidi type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pallister W syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
DK phocomelia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Carpenter Waziri syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Carpenter Waziri syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Lissencephaly due to tubulin alpha 1A mutation (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Spondyloepiphyseal dysplasia and brachydactyly with speech disorder syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
WT limb blood syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
14q11.2 microdeletion syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
syndrome de déficience intellectuelle liée à l'X-dysmorphie-atrophie cérébrale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Sparse hair with short stature and skin anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Smith Fineman Myers syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Smith Fineman Myers syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Short stature Brussels type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Self-healing collodion baby (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Acral self-healing collodion baby (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Sparse hair with short stature and skin anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Pyknoachondrogenesis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Shprintzen Goldberg craniosynostosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Pyknoachondrogenesis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Spinocerebellar ataxia type 34 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
BSG syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
BSG syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
BSG syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Pelviscapular dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Stapes ankylosis with broad thumb and toe syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Steatocystoma multiplex with natal tooth syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hadziselimovic syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Hadziselimovic syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Lethal faciocardiomelic dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Lethal faciocardiomelic dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Lethal omphalocele with cleft palate syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	10
Stapes ankylosis with broad thumb and toe syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Hadziselimovic syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Microcephalus with albinism and digital anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7
Lelis syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Late-onset junctional epidermolysis bullosa (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	8
Microcephalus with albinism and digital anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	9
Microcephalus cleft palate syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Disorder of sex development with intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Postaxial polydactyly type A (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Postaxial polydactyly type B (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
syndrome de fibromatose gingivale-dysmorphie faciale	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
X-linked intellectual disability Cabezas type (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
X-linked intellectual disability with plagiocephaly syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
X-linked mandibulofacial dysostosis (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
X-linked myopathy with excessive autophagy (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	7

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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