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
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Oro-facial digital syndrome type 12	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Oro-facial digital syndrome type 12	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Oro-facial digital syndrome type 12	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Oro-facial digital syndrome type 12	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Oro-facial digital syndrome type 12	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
syndrome de Marfan néonatal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de Marfan néonatal	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Keipert syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Oro-facial digital syndrome type 13	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Oro-facial digital syndrome type 13	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Oro-facial digital syndrome type 13	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Oro-facial digital syndrome type 13	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Keratosis linearis, ichthyosis congenita, sclerosing keratoderma syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	6
Craniofaciofrontodigital syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Birth defect due to maternal hyperthermia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Oro-facial digital syndrome type 14	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carrier	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Segmental outgrowth, lipomatosis, arteriovenous malformation, epidermal nevus syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Odonto onycho dysplasia with alopecia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Aortic arch anomaly, facial dysmorphism, intellectual disability syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Macrocephaly and developmental delay syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Keipert syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Curly hair, acral keratoderma, caries syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Nail and tooth abnormalities, marginal palmoplantar keratoderma, oral hyperpigmentation syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Craniodigital syndrome and intellectual disability syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
dysplasie dyssegmentaire type Silverman-Handmaker	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Intellectual disability, myopathy, short stature, endocrine defect syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Familial progressive hyper and hypopigmentation	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Trichodermodysplasia and dental alterations syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Odonto onycho dysplasia with alopecia syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hypotrichosis, osteolysis, periodontitis, palmoplantar keratoderma syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Oro-facial digital syndrome type 11 (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	5
Intellectual disability, brachydactyly, Pierre Robin syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Microcephalus, cerebellar hypoplasia, cardiac conduction defect syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Microdactyly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Congenital deformity of left lower limb (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Bilateral congenital deformity of lower limbs	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Bilateral congenital deformity of lower limbs	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Bilateral congenital deformity fingers	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Bilateral congenital deformity fingers	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital deformity of right finger	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital deformity of right upper limb (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital deformity of left finger	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital deformity of right lower limb	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of cardiac chamber (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
polykystose rénale autosomique dominante type 1 avec sclérose tubéreuse	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Ichthyosis, alopecia, eclabion, ectropion, intellectual disability syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
HIVEP2-related intellectual disability	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Alstrom syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
X-linked intellectual disability, hypogonadism, ichthyosis, obesity, short stature syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Angioosteohypotrophic syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Microcephalic primordial dwarfism Montreal type	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
syndrome de brachydactylie, mésomélie, déficience intellectuelle, malformation cardiaque	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Axial mesodermal dysplasia spectrum (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Incomplete ossification of ilium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Incomplete ossification of ischium (finding)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Incomplete ossification of pubis (finding)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Lack of ossification of pubis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Incomplete ossification of bone (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XX	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Pure gonadal dysgenesis 46,XY	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pure gonadal dysgenesis 46,XY	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pure gonadal dysgenesis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Pure gonadal dysgenesis	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Retroesophageal aortic arch	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	4
Lack of ossification of ischium	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital left vesicoureterorenal reflux	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital left vesicoureterorenal reflux	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital right vesicoureterorenal reflux	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital right vesicoureterorenal reflux	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Supernumerary calcaneus	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Supernumerary forepaw phalanx	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Supernumerary liver lobe	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Supernumerary metatarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Supernumerary tarsal bone	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
True generalized microdontia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Unilateral acheiria	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Unilateral congenital absence of foot	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Hartsfield syndrome	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital claw toe	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some
Nijmegen breakage syndrome-like disorder (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Congenital bronchomalacia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Neuhauser anomaly	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital myelin deficiency of the optic disc	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Persistent pupillary membranes	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Epiphyseal dysplasia, hearing loss, dysmorphism syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Trichoodontoonychial dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Trichoodontoonychial dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3
Trichoodontoonychial dysplasia	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Diencephalic mesencephalic junction dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	2
Diencephalic mesencephalic junction dysplasia (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Congenital anomaly of optic nerve	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Trichodysplasia xeroderma syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	1
Hypomyelination neuropathy arthrogryposis syndrome (disorder)	morphologie associée (attribut)	False	Developmental abnormality	Inferred relationship	Some	3

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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