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 anomaly	Is a	Congenital anomaly	false	Inferred relationship	Some
Developmental anomaly	Is a	Morphologically abnormal structure (morphologic abnormality)	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
14q11.2 microdeletion syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
X-linked intellectual disability with dysmorphism and cerebral atrophy syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
X-linked intellectual disability and epilepsy with progressive joint contracture and facial dysmorphism syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
X-linked intellectual disability and hypotonia with facial dysmorphism and aggressive behavior syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Sparse hair with short stature and skin anomaly syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Smith Fineman Myers syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Smith Fineman Myers syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Short stature Brussels type (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Autosomal recessive palmoplantar keratoderma and congenital alopecia syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	8
X-linked intellectual disability with cubitus valgus and dysmorphism syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Self-healing collodion baby (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Acral self-healing collodion baby (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Hypertrophic cardiomyopathy with hypotonia and lactic acidosis syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Sparse hair with short stature and skin anomaly syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Pyknoachondrogenesis (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Shprintzen Goldberg craniosynostosis syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Primary ciliary dyskinesia and retinitis pigmentosa syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Pyknoachondrogenesis (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	7
Spinocerebellar ataxia type 34 (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
BSG syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
BSG syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
BSG syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Pelviscapular dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Stapes ankylosis with broad thumb and toe syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Steatocystoma multiplex with natal tooth syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Microcephalus with brachydactyly and kyphoscoliosis syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Hadziselimovic syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Hadziselimovic syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Lethal faciocardiomelic dysplasia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Lethal faciocardiomelic dysplasia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Lethal omphalocele with cleft palate syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	10
Stapes ankylosis with broad thumb and toe syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Hadziselimovic syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Microcephalus and intellectual disability with phalangeal and neurological anomaly syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Microcephalus with albinism and digital anomaly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	7
Lelis syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Late-onset junctional epidermolysis bullosa (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Malignant hyperthermia with arthrogryposis and torticollis syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Autosomal dominant palmoplantar keratoderma and congenital alopecia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	8
Microcephalus with albinism and digital anomaly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	9
Microcephalus cleft palate syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Disorder of sex development with intellectual disability syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Cleft lip and cleft palate with intestinal malrotation and cardiopathy syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
X-linked Dandy-Walker malformation with intellectual disability, basal ganglia disease and seizure syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Pterygium colli with intellectual disability and digital anomaly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Cleft palate with short stature and vertebral anomaly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Postaxial polydactyly type A (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Postaxial polydactyly type B (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Congenital lipomatous overgrowth, vascular malformation, epidermal nevi, skeletal anomaly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Gingival fibromatosis with facial dysmorphism syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
X-linked intellectual disability Cabezas type (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
X-linked intellectual disability with plagiocephaly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
X-linked mandibulofacial dysostosis (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
X-linked myopathy with excessive autophagy (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Ventricular extrasystoles with syncope, perodactyly and Robin sequence syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	7
Xeroderma pigmentosum and Cockayne syndrome complex (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Naxos disease	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
8q22.1 microdeletion syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Absent thumb with short stature and immunodeficiency syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Wilson Turner syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Renal dysplasia with limb defect syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Van den Ende-Gupta syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Tel Hashomer camptodactyly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Trigonocephaly with broad thumb syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	7
Trigonocephaly with broad thumb syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	8
Haim Munk syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
X-linked distal arthrogryposis multiplex congenita (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Renal dysplasia with limb defect syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Ulna fibula ray defect and brachydactyly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Chromosome Xq28 trisomy	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Trichomegaly with retina pigmentary degeneration and dwarfism syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Temtamy syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Autosomal dominant limb girdle muscular dystrophy type 1A (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Autosomal dominant limb girdle muscular dystrophy type 1C	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Autosomal dominant limb girdle muscular dystrophy type 1D (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Autosomal dominant limb girdle muscular dystrophy type 1E (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Autosomal dominant limb girdle muscular dystrophy type 1F (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Autosomal dominant limb girdle muscular dystrophy type 1G (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Visceral neuropathy and brain anomaly with facial dysmorphism and developmental delay syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Van den Ende-Gupta syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Trichodysplasia with amelogenesis imperfecta syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Temtamy syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Haim Munk syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Woolly hair and palmoplantar keratoderma with dilated cardiomyopathy syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	7
Tel Hashomer camptodactyly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Taurodontia with absent teeth and sparse hair syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Timothy syndrome type 2 (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Uncombable hair, retinal pigmentary dystrophy, dental anomaly and brachydactyly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital anomaly of right ear (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1

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Reference Sets

Concept inactivation indicator reference set

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
188572017	Developmental malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188573010	Developmental anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188574016	Developmental defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
188575015	Congenital anomaly, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190332014	Anomalous formation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190333016	Abnormal development, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190334010	Congenital abnormality, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190335011	Malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character 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
190342011	Congenital malformation, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190343018	Congenital defect, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190344012	Congenital deformity, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
190345013	Dysgenesis, NOS	en	Synonym (core metadata concept)	Inactive	Only initial character case insensitive (core metadata concept)	SNOMED CT core
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
1208681014	Developmental abnormality	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core