FHIR © HL7.org  |  Server Home  |  FHIR Server FHIR Server 3.7.4-SNAPSHOT  |  FHIR Version n/a  User: [n/a]

1237342004: Lethal fetal cerebrorenogenitourinary agenesis or 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
5097796018 Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5097797010 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5097798017 Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5097799013 Lethal foetal cerebrorenogenitourinary agenesis/hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400259011 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400260018 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterised by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5097796018 Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5097797010 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5097798017 Lethal fetal cerebrorenogenitourinary agenesis or hypoplasia syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5097799013 Lethal foetal cerebrorenogenitourinary agenesis/hypoplasia syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5097800012 A rare genetic developmental defect during embryogenesis malformation syndrome with characteristics of intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400259011 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterized by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400260018 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome is a rare, genetic developmental defect during embryogenesis malformation syndrome characterised by intrauterine growth restriction, flexion arthrogryposis of all joints, severe microcephaly, renal cystic dysplasia/agenesis/hypoplasia and complex malformations of the brain (cerebral and cerebellar hypoplasia, vermis, corpus callosum and/or occipital lobe agenesis, with or without arhinencephaly), as well as of the genitourinary tract (ureteral agenesis/hypoplasia, uterine hypoplasia and/or vaginal atresia), leading to fetal demise. 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 cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a Fetus with hereditary disease true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a Hereditary nephropathy (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a Fetal microcephaly (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a Anomaly of fetal kidney (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a Multiple anomalies of fetus (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a Disorder of brain true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Is a Malformation of central nervous system of fetus (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Occurrence Fetal period (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Finding site Kidney structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Occurrence Fetal period (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Finding site The cerebrum is the regional structure of the brain, which is the adult equivalent of the forebrain or prosencephalon. It is constituted by the structural derivatives of the telencephalon and diencephalon including the cerebral hemispheres, epithalamus, thalamus, hypothalamus, lateral ventricles and third ventricle. This definition is harmonious with the Federation of Association of Anatomist Second Edition (2019) Part V Terminologia Anatomica. true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Occurrence Fetal period (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Finding site Head structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Associated morphology Growth alteration true Inferred relationship Existential restriction modifier (core metadata concept) 3
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start