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
Congenital pulmonary arteriovenous aneurysm	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Neurofibromatosis Noonan syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital thickening of tarsal bone	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Fetal varicella syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Preauricular dimple	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Nicolaides-Baraitser syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Oto-onycho-peroneal syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Oto-onycho-peroneal syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Oto-onycho-peroneal syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	7
Oto-onycho-peroneal syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	8
Embryopathy caused by phenobarbital (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
McDonough syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Delayed membranous cranial ossification (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Naxos disease	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Naxos disease	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Ophthalmomandibulomelic dysplasia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Ophthalmomandibulomelic dysplasia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Autosomal recessive distal osteolysis syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Pituitary stalk interruption syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Lissencephaly type 1 due to doublecortin gene mutation (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Acrocallosal syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Autosomal recessive distal osteolysis syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Acrocallosal syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Glomuvenous malformation (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Waardenburg Shah syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	8
Prominent glabella with microcephaly and hypogenitalism syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Goniodysgenesis with intellectual disability and short stature syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Phocomelia Schinzel type (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Diabetic embryopathy (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
X-linked retinal dysplasia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Neurofibromatosis Noonan syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Autosomal recessive cerebelloparenchymal disorder type 3 (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Isolated lissencephaly type 1 without known genetic defect (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Craniofrontonasal dysplasia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Craniotelencephalic dysplasia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Acromelic frontonasal dysplasia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Embryofetopathy caused by indomethacin (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Mirror polydactyly, vertebral segmentation and limb defect syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Lethal arthrogryposis co-occurrent with anterior horn cell disease (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Desmin related myopathy with Mallory body-like inclusions (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Ischio-vertebral syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Deafness craniofacial syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Cerebellar ataxia co-occurrent with ectodermal dysplasia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Ameloonychohypohidrotic syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	9
Mesomelic dysplasia with cleft palate and camptodactyly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	10
Crane Heise syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Crane Heise syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Seaver Cassidy syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Seaver Cassidy syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Seaver Cassidy syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Congenital muscular dystrophy with infantile cataract and hypogonadism syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Cleft lip and cleft palate with ectodermal dysplasia syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Congenital ptosis (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Ectodermal dysplasia with natal teeth Turnpenny type (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Congenital myogenic ptosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	4
Familial isolated arrhythmogenic right ventricular dysplasia (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Pseudoaminopterin syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Pseudoaminopterin syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Fetal diethylstilbestrol syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Maxillonasal dysplasia syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Dyssegmental dysplasia with glaucoma syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Lowry Yong syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	10
Cataract with aberrant oral frenula and growth delay syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Frontofacionasal dysplasia syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Xeroderma pigmentosum, group B	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Non-neurologic xeroderma pigmentosum	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Pigmented xerodermoid	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Xeroderma pigmentosum, group C (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Xeroderma pigmentosum, group G	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Xeroderma pigmentosum, group F	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Xeroderma pigmentosum, group A	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Xeroderma pigmentosum	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Xeroderma pigmentosum, group E	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Xeroderma pigmentosum, group D	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Xeroderma pigmentosum, variant form	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Short stature with craniofacial anomalies and genital hypoplasia syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Holoprosencephaly and postaxial polydactyly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Fibulo-ulnar hypoplasia and renal anomalies syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Hypospadias and intellectual disability syndrome Goldblatt type (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Ichthyosis cheek eyebrow syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Ichthyosis cheek eyebrow syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Limb body wall complex (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Macrocephaly with spastic paraplegia and dysmorphism syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Upper limb defect with eye and ear abnormalities syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Upper limb defect with eye and ear abnormalities syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Mullerian duct and limb anomalies syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Mullerian duct and limb anomalies syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Holoprosencephaly sequence with hypokinesia and congenital joint contracture syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Odontoma dysphagia syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Short stature and deafness with neutrophil dysfunction and facial dysmorphism syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Short stature with valvular heart disease and characteristic facies syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Pili torti with developmental delay and neurological abnormality syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Autosomal recessive brachyolmia and amelogenesis imperfecta syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Delayed speech and facial asymmetry with strabismus and ear lobe skin crease syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Steinfeld syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2
Steinfeld syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	3
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	5
Deafness with epiphyseal dysplasia and short stature syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	6
Intellectual disability and short stature with hand contracture and genital anomaly syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	1
Potter sequence cleft lip and palate cardiopathy syndrome (disorder)	Associated morphology	False	Developmental anomaly	Inferred relationship	Some	2

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Reference Sets

Concept inactivation indicator reference set

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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
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
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