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715462003: Microcephalus co-occurrent with cervical spine fusion anomaly (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2016. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3302463011 Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302464017 Microcephalus co-occurrent with cervical spine fusion anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3302465016 Microcephaly with cervical spine fusion anomaly en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
5400905015 Microcephaly-cervical spine fusion anomalies syndrome is characterized by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
5400906019 Microcephaly-cervical spine fusion anomalies syndrome is characterised by microcephaly, facial dysmorphism (beaked nose, low-set ears, downslanting palpebral fissures, micrognathia), mild intellectual deficit, short stature, and cervical spine fusion anomalies producing spinal cord compression. It has been described in two brothers born to consanguineous parents. Transmission is likely to be autosomal recessive. 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
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Microcephalus false Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Congenital fusion of spine true Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Congenital anomaly of cervical vertebra true Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Lesion of neck true Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Connective tissue hereditary disorder (disorder) false Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Hereditary disorder of musculoskeletal system true Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Associated morphology Congenital smallness false Inferred relationship Some 2
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Finding site Brain structure false Inferred relationship Some 2
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 3
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Occurrence Congenital true Inferred relationship Some 3
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Finding site Bone structure of cervical vertebra false Inferred relationship Some 3
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Finding site Bone structure of cervical vertebra true Inferred relationship Some 1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Occurrence Congenital true Inferred relationship Some 1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Associated morphology Congenital abnormal fusion false Inferred relationship Some 1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Finding site Head structure true Inferred relationship Some 2
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Occurrence Congenital true Inferred relationship Some 2
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Interprets Birth head circumference true Inferred relationship Some 4
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Is a Multiple malformation syndrome with facial defects as major feature true Inferred relationship Some
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Finding site Face structure true Inferred relationship Some 3
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Associated morphology Abnormally fused structure (morphologic abnormality) true Inferred relationship Some 1
Microcephalus co-occurrent with cervical spine fusion anomaly (disorder) Associated morphology Abnormal smallness (morphologic abnormality) true Inferred relationship Some 2

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

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

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