21390004: Developmental anomaly (morphologic abnormality)

Status: retired, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2021. Module: SNOMED CT core module

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Developmental anomaly	Is a	Congenital anomaly	false	Inferred relationship	Existential restriction modifier
Developmental anomaly	Is a	Morphologically abnormal structure	false	Inferred relationship	Existential restriction modifier

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Syncephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Escobar syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Marshall-Smith syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Male epispadias repair	Direct morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Multiple malformation syndrome with early overgrowth	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Fetus with central nervous system malformation with antenatal problem	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital iodine deficiency syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Acrocephalopolysyndactyly type II	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Omocephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Orofacial-digital syndrome III	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Orofacial-digital syndrome III	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Derodidymis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Dithoracic parapagus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Myxedematous form of cretinism	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital iodine deficiency syndrome of mixed type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Dipodia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Waardenburg syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Grob's syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Laterality sequence	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
X-linked hydrocephalus syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Acromegaloid phenotype with cutis verticis gyrata and corneal leukoma	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Correction of congenital anorectal malformation	Direct morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Werner syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Polysomatous monster	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Segmental lymphangiomatosis	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Asymmetric crying face association	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Common atrioventricular orifice in double inlet ventricle	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
MVRCS association	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Neonatal osteosclerotic dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Frontonasal dysplasia sequence	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Thoracoparacephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Steinert myotonic dystrophy syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
FG syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
FG syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Hecht syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Oculofaciocardiodental syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Acrocephalopolysyndactyly type III	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Athyrotic hypothyroidism sequence	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Biemond's syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Congenital sequestration	Is a	False	Developmental anomaly	Inferred relationship	Existential restriction modifier
Townes syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Townes syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Robin sequence	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Early urethral obstruction sequence	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Multiple malformation syndrome with senile-like appearance	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Kenny syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Cardio-facio-cutaneous syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Diprosopus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Maternal phenylketonuria fetal effect	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Raine dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Dicephalus dipus dibrachius	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Mulibrey nanism syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Multiple malformation syndrome with limb defect as major feature	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Cranial duplication	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Fetal Alcohol Spectrum Disorder	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Femoral hypoplasia - unusual facies syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Monster with cranial anomalies	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Oculodentodigital syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Pygomelus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Hemicardia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Semi-lobar holoprosencephaly	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Cutaneous lymphangiectasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Congenital anomaly of pupil	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Spondyloperipheral dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Spondyloepimetaphyseal dysplasia, Strudwick type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Spondylocarpotarsal synostosis syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Genitopatellar syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
RAPADILINO syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Diaphragmatic hernia, abnormal face and distal limb anomalies	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Warsaw breakage syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Oculodento-osseous dysplasia - severe type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Stickler syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Mohr syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Fragile X syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	1
Larsen syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Johanson-Blizzard syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Jugular lymphatic obstruction sequence	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Oto-palato-digital syndrome, type II	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Hallermann-Streiff syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Orofacial-digital syndrome IV	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Oto-palato-digital syndrome, type I	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Oral-facial-digital syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Orofacial-digital syndrome III	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Schinzel-Giedion syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Chondroectodermal dysplasia	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Oculodentodigital syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Oculodentodigital syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	6
Oculodento-osseous dysplasia - mild type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Oculodento-osseous dysplasia - mild type	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Miller syndrome	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	5
Acrosyndactyly of upper limb	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Aganglionosis of Auerbach's plexus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	4
Atrial septal defect through coronary sinus orifice	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Accessory tissue on truncal valve cusp	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Right posterior open bite	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Left posterior open bite	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	2
Agnathus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Synotus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3
Derencephalus	Associated morphology	False	Developmental anomaly	Inferred relationship	Existential restriction modifier	3

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Id	Description	Lang	Type	Status	Case?	Module
183282017	Developmental anomaly	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190336012	Developmental malformation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190337015	Developmental defect	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190338013	Dysgenesis	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190339017	Anomalous formation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190340015	Abnormal development	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
190341016	Malformation	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
750678013	Developmental anomaly (morphologic abnormality)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
1208681014	Developmental abnormality	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module