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719379001: Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3316147015 Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316148013 Microcephalus with cardiac defect and lung malsegmentation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316149017 Microcephaly with cardiac defect and lung malsegmentation syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core
3316150017 Ellis Yale Winter syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core
3316151018 A very rare syndrome with the combination of microcephaly, heart defects, renal hypoplasia, lung segmentation defects and cleft palate. It has been described in three female siblings. Dysmorphic features were not characteristic. The condition seems to be hereditary, and transmitted as an autosomal recessive trait. Prognosis is poor and all children died in infancy. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core
3890731000052115 syndrom med mikrocefali, hjärtdefekt och felaktig segmentering av lunga sv Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT Sweden NRC maintained module (core metadata concept)


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a mikrocefali false Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Congenital heart disease true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Congenital anomaly of lung true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Congenital anomaly of brain false Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Multiple system malformation syndrome true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Autosomal recessive hereditary disorder true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Cardiovascular system hereditary disorder true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Hereditary disorder of nervous system false Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology utvecklingsabnormitet false Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology Congenital smallness false Inferred relationship Some 5
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Occurrence Congenital false Inferred relationship Some 5
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Brain structure false Inferred relationship Some 5
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology Congenital smallness true Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Brain structure false Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Lung structure false Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Heart structure false Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Lung structure true Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 2
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Heart structure true Inferred relationship Some 1
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Developmental hereditary disorder true Inferred relationship Some
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Interprets Birth head circumference true Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Finding site Head structure true Inferred relationship Some 3
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Has interpretation Below reference range true Inferred relationship Some 4
Microcephalus with cardiac defect and lung malsegmentation syndrome (disorder) Is a Congenital microcephaly (disorder) true Inferred relationship Some

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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