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1237470001: Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
5099370014 Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099371013 Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099376015 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome with characteristics of mid-gestation lethality and features of a ciliopathy. Clinical manifestations include hydrocephalus, cerebellar vermis hypoplasia, corpus callosum agenesis, duodenal atresia, gastrointestinal malrotation, bilateral renal hypoplasia and dysmorphic craniofacial features (such as microcephaly, hypertelorism, low-set ears, prominent nose, short columella, cleft palate, micrognathia and wide mouth). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a Bilateral renal hypoplasia true Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a Developmental hereditary disorder true Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a Digestive system hereditary disorder (disorder) true Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a Hereditary disorder of nervous system true Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a Congenital atresia of duodenum true Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a Congenital anomaly of brain true Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence Congenital true Inferred relationship Some 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Finding site Brain structure true Inferred relationship Some 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence Congenital true Inferred relationship Some 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Finding site Face structure true Inferred relationship Some 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence Congenital true Inferred relationship Some 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Finding site Left kidney structure (body structure) true Inferred relationship Some 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology Hypoplasia true Inferred relationship Some 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence Congenital true Inferred relationship Some 4
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Finding site Right kidney structure true Inferred relationship Some 4
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology Hypoplasia true Inferred relationship Some 4
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 4
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Occurrence Congenital true Inferred relationship Some 5
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Finding site Duodenal structure true Inferred relationship Some 5
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology Congenital atresia false Inferred relationship Some 5
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Pathological process (attribute) Pathological developmental process true Inferred relationship Some 5
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome Associated morphology Atresia (morphologic abnormality) true Inferred relationship Some 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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US English

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