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
dysgenese	Is a	kongenit anomali	false	Inferred relationship	Some
dysgenese	Is a	Morphologically abnormal structure	false	Inferred relationship	Some

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Cheilognathoschisis	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Congenital chorioretinal degeneration	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cardiac septal defects	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Ectrodactyly-ectodermal dysplasia-clefting syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	5
kongenit atresi	Is a	False	dysgenese	Inferred relationship	Some
Fetal hydantoin syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomalies of elbow and upper arm	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Fetal trimethadione syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital anomalies of eyelid, lacrimal system and orbit	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital anomalies of eyelid, lacrimal system and orbit	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Ambiguous genitalia	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cyst of Wolffian duct	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Abnormal plantar creases	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital eventration of left crus of diaphragm	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Præaurikulær sinus og fistel	Associated morphology	False	dysgenese	Inferred relationship	Some	7
Præaurikulær sinus og fistel	Associated morphology	False	dysgenese	Inferred relationship	Some	8
Female pseudohermaphroditism	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Accessory sternebral ossification site	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Patent ductus venosus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Streak gonad	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Reifensteins syndrom	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Hydatid cyst of Morgagni - female	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Male pseudohermaphroditism	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cyst of hydatid of Morgagni	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital malformation of uterus and cervix	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Abnormal course of aortic arch and descending aorta (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Vitellointestinal band	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Congenital anomaly of digestive system	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Mesonephric cyst	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Wolffian duct cyst - male	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Ovotestis	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Abnormal palmar creases	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Cervical, vaginal and external female genital anomalies	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital malformation of genital organs	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Closed ductus venosus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Genitourinary congenital anomalies	Associated morphology	False	dysgenese	Inferred relationship	Some	2
cyste af embryorest – mand	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Congenital eventration of right crus of diaphragm	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Persistent urogenital sinus	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Ductus venosus abnormality	Associated morphology	False	dysgenese	Inferred relationship	Some	2
3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency	Associated morphology	False	dysgenese	Inferred relationship	Some	4
False hermaphrodite	Associated morphology	False	dysgenese	Inferred relationship	Some	2
ubestemmeligt køn og pseudohermafroditisme	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Auriculo-condylar syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Vascular loops of inner ear	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Vascular malformation of inner ear	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Pseudohermaphroditism	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Duhamel operation, abdominoperineal pull-through (procedure)	Direct morphology	False	dysgenese	Inferred relationship	Some	4
Fetal cocaine syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A group of dysmorphic complexes (including Charlie M syndrome, Hanhart syndrome and glossopalatine ankylosis) with the association of severe asymmetric limb defects (primarily involving distal segments) and abnormalities of the oral cavity and mandible (hypoglossia, aglossia, micrognathia, glossopalatine ankylosis, cleft palate, and gingival anomalies).	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Cystic hygroma (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Schwartz-Jampel syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Simple lymphangioma	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Cephalodiprosopus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Monocephalus tripus dibrachius	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Congenital malformation of the eyebrow (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Capillary-venous-lymphatic malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Capillary-venous-lymphatic malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Endemic congenital iodine deficiency syndrome of myxedematous type (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Stickler syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	6
Supernumerary structure	Is a	False	dysgenese	Inferred relationship	Some
Radial aplasia-thrombocytopenia syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Pentalogy of Cantrell	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Male subcoronal hypospadias	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Meckel-Gruber syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Aarskog syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Smith-Lemli-Opitz syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Russell-Silver syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Multiple malformation syndrome, moderate short stature, facial	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Cephalothoracopagus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Primary ciliary dyskinesia due to transposition of ciliary microtubules	Associated morphology	False	dysgenese	Inferred relationship	Some	1
A congenital disorder of craniofacial development with characteristics of bilateral symmetrical oto-mandibular dysplasia without abnormalities of the extremities, and associated with several head and neck defects. The syndrome is caused by mutations in the TCOF1 gene (5q32) encoding the nucleolar phosphoprotein Treacle or in the POLR1C (6p21.1) or POLR1D (13q12.2) genes, coding for RNA polymerase I and III subunits. Transmission is autosomal dominant with 90% penetrance and variable expressivity, even among affected patients within the same family. Mutations in POLR1C gene are inherited in autosomal recessive manner.	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Lobar holoprosencephaly	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Fetal alcohol syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Myhre syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Deradelphus (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Facial milia, lobate tongue, lingual and labial frenula syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Malformation sequence	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Rehbein procedure	Direct morphology	False	dysgenese	Inferred relationship	Some	2
Allemann's syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Arteriovenous-lymphatic malformation	Associated morphology	False	dysgenese	Inferred relationship	Some	5
Mohr syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Mohr syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Miller syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	4
Dicephalus tripus tribrachius	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Katadidymus	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Penoscrotal hypospadias (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	3
Marinesco-Sjögren syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Weaver syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Vertebral abnormalities, anal atresia, cardiac abnormalities, tracheo-esophageal fistula, renal anomalies, limb defects syndrome (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Fetal anencephaly (disorder)	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Acrocephalosyndactyly	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Desmiognathus	Associated morphology	False	dysgenese	Inferred relationship	Some	2
Fetal minoxidil syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Pena-Shokeirs fænotype	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Kundrat's syndrome	Associated morphology	False	dysgenese	Inferred relationship	Some	2
lymfangiektasi med kyløst refluks	Associated morphology	False	dysgenese	Inferred relationship	Some	2
enkelt misfoster, specificeret type	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Sirenomeli-sekvens	Associated morphology	False	dysgenese	Inferred relationship	Some	1
Persistent omphalomesenteric artery	Associated morphology	False	dysgenese	Inferred relationship	Some	4
A rare developmental defect during embryogenesis with characteristics of unilateral inflammatory and scaling skin lesions with ipsilateral visceral and limb anomalies. NSDHL (Xq28) encodes a protein responsible for cholesterol biosynthesis, mutations are typically lethal in males. X-inactivation creates a mosaic of cells lacking the enzyme in females, disrupting embryonic development and leading to a highly variable spectrum of anomalies. Transmission is X-linked dominant.	Associated morphology	False	dysgenese	Inferred relationship	Some	1

Start Previous Page 52 of 73 Next End

Reference Sets

Concept inactivation indicator reference set

GB English

US English

POSSIBLY EQUIVALENT TO association reference set (foundation metadata concept)

Back to Start

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
2614401000005117	dysgenese	da	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Danish module (core metadata concept)