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

1237421000: Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (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
5099084012 Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099085013 PYCR2-related microcephaly, progressive leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5099086014 Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099087017 Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099088010 PYCR2-related microcephaly, progressive leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400283015 PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400284014 PYCR2-related microcephaly-progressive leucoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterised by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5099084012 Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leucoencephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099085013 PYCR2-related microcephaly, progressive leucoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5099086014 Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099087017 Pyrroline-5-carboxylate reductase 2 related microcephaly, progressive leukoencephalopathy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5099088010 PYCR2-related microcephaly, progressive leukoencephalopathy en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
5099089019 A rare genetic syndromic intellectual disability disorder with characteristics of progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delay, with absent speech, axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down or upslanting palpebral fissures, malar hypoplasia, large malformed ears with over-folded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400283015 PYCR2-related microcephaly-progressive leukoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterized by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400284014 PYCR2-related microcephaly-progressive leucoencephalopathy is a rare, genetic, syndromic intellectual disability disorder characterised by progressive postnatal microcephaly, cerebral hypomyelination and severe psychomotor developmental delayed with absent speech, as well as axial hypotonia, appendicular hypertonia with hyperextensibility of the wrists and ankles, hyperreflexia, severe muscle wasting and failure to thrive. Associated craniofacial dysmorphism includes triangular facies with bitemporal narrowing, down- or upslanting palpebral fissures, malar hypoplasia, large malformed ears with overfolded helices, upturned bulbous nose, long smooth philtrum and thin vermilion borders. 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
PYCR2-related microcephaly, progressive leucoencephalopathy Is a Intelligenzminderung true Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a Microcephaly (finding) true Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a Leukoencephalopathy true Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a Hereditary disorder of nervous system (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a Chronic brain syndrome (disorder) true Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier (core metadata concept)
PYCR2-related microcephaly, progressive leucoencephalopathy Clinical course Progressive true Inferred relationship Existential restriction modifier (core metadata concept) 5
PYCR2-related microcephaly, progressive leucoencephalopathy Finding site Cerebral white matter structure true Inferred relationship Existential restriction modifier (core metadata concept) 6
PYCR2-related microcephaly, progressive leucoencephalopathy Interprets Intellectual ability (observable entity) true Inferred relationship Existential restriction modifier (core metadata concept) 2
PYCR2-related microcephaly, progressive leucoencephalopathy Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 2
PYCR2-related microcephaly, progressive leucoencephalopathy Interprets Adaptation behavior true Inferred relationship Existential restriction modifier (core metadata concept) 3
PYCR2-related microcephaly, progressive leucoencephalopathy Has interpretation Impaired (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 3
PYCR2-related microcephaly, progressive leucoencephalopathy Interprets Head circumference true Inferred relationship Existential restriction modifier (core metadata concept) 4
PYCR2-related microcephaly, progressive leucoencephalopathy Has interpretation Below reference range true Inferred relationship Existential restriction modifier (core metadata concept) 4
PYCR2-related microcephaly, progressive leucoencephalopathy Occurrence Congenital true Inferred relationship Existential restriction modifier (core metadata concept) 1
PYCR2-related microcephaly, progressive leucoencephalopathy Finding site Face structure (body structure) true Inferred relationship Existential restriction modifier (core metadata concept) 1
PYCR2-related microcephaly, progressive leucoencephalopathy Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier (core metadata concept) 1
PYCR2-related microcephaly, progressive leucoencephalopathy Pathological process (attribute) Pathological developmental process (qualifier value) true Inferred relationship Existential restriction modifier (core metadata concept) 1
Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

Back to Start