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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
5400287019 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by 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
5400288012 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterised by 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
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
5400287019 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterized by 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
5400288012 A rare genetic lethal multiple congenital anomalies/dysmorphic syndrome characterised by 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 (disorder) Is a Bilateral renal hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a Digestive system hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a Congenital atresia of duodenum true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a Congenital anomaly of brain true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Finding site Brain structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Finding site rein gauche true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Finding site rein droit true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 5
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Finding site Duodenal structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Associated morphology Congenital atresia false Inferred relationship Existential restriction modifier (core metadata concept) 5
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 5
Lethal fetal brain malformation, duodenal atresia, bilateral renal hypoplasia syndrome (disorder) Associated morphology Atresia (morphologic abnormality) true Inferred relationship Existential restriction modifier (core metadata concept) 5

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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