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702432006: Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jul 2014. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
2995571013 Diaphragmatic hernia, abnormal face and distal limb anomalies (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
2995610010 Fryns syndrome en Synonym Active Entire term case sensitive SNOMED CT core module
2995721013 Diaphragmatic hernia, abnormal face and distal limb anomalies en Synonym Active Entire term case insensitive SNOMED CT core module

0 descendants.

Expanded Value Set

Outbound Relationships Type Target Active Characteristic Refinability Group Values
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a Multiple malformation syndrome with facial defects as major feature false Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a Disorder of diaphragm false Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Finding site Diaphragm structure false Inferred relationship Existential restriction modifier 2
Diaphragmatic hernia, abnormal face and distal limb anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Diaphragmatic hernia, abnormal face and distal limb anomalies Associated morphology Developmental anomaly false Inferred relationship Existential restriction modifier 2
Diaphragmatic hernia, abnormal face and distal limb anomalies Finding site Face structure false Inferred relationship Existential restriction modifier 2
Diaphragmatic hernia, abnormal face and distal limb anomalies Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Diaphragmatic hernia, abnormal face and distal limb anomalies Associated morphology Morphologically abnormal structure true Inferred relationship Existential restriction modifier 1
Diaphragmatic hernia, abnormal face and distal limb anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Diaphragmatic hernia, abnormal face and distal limb anomalies Finding site Face structure true Inferred relationship Existential restriction modifier 1
Diaphragmatic hernia, abnormal face and distal limb anomalies Finding site Lung structure true Inferred relationship Existential restriction modifier 4
Diaphragmatic hernia, abnormal face and distal limb anomalies Finding site Limb structure true Inferred relationship Existential restriction modifier 5
Diaphragmatic hernia, abnormal face and distal limb anomalies Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 5
Diaphragmatic hernia, abnormal face and distal limb anomalies Associated morphology Hypoplasia true Inferred relationship Existential restriction modifier 4
Diaphragmatic hernia, abnormal face and distal limb anomalies Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a Congenital hypoplasia of lung true Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 4
Diaphragmatic hernia, abnormal face and distal limb anomalies Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 5
Diaphragmatic hernia, abnormal face and distal limb anomalies Pathological process Pathological developmental process false Inferred relationship Existential restriction modifier 2
Diaphragmatic hernia, abnormal face and distal limb anomalies Associated morphology Herniated structure true Inferred relationship Existential restriction modifier 2
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a Multiple malformation syndrome with facial-limb defects as major feature true Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Finding site Diaphragm structure true Inferred relationship Existential restriction modifier 3
Diaphragmatic hernia, abnormal face and distal limb anomalies Associated morphology Hernial opening true Inferred relationship Existential restriction modifier 3
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a Congenital diaphragmatic hernia true Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a Hereditary disorder of musculoskeletal system true Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Diaphragmatic hernia, abnormal face and distal limb anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 4
Diaphragmatic hernia, abnormal face and distal limb anomalies Occurrence Congenital true Inferred relationship Existential restriction modifier 5
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a Autosomal recessive hereditary disorder true Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Finding site Structure of organ within abdominopelvic cavity false Inferred relationship Existential restriction modifier 2
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a Congenital anomaly of abdomen false Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Is a Developmental hereditary disorder true Inferred relationship Existential restriction modifier
Diaphragmatic hernia, abnormal face and distal limb anomalies Finding site Structure of abdominopelvic cavity and/or content of abdominopelvic cavity and/or anterior abdominal wall false Inferred relationship Existential restriction modifier 2
Diaphragmatic hernia, abnormal face and distal limb anomalies Finding site Structure of abdominopelvic cavity and/or content true Inferred relationship Existential restriction modifier 2
Inbound Relationships Type Active Source Characteristic Refinability Group
Microphthalmos due to Fryns syndrome Due to True Diaphragmatic hernia, abnormal face and distal limb anomalies Inferred relationship Existential restriction modifier 2

This concept is not in any reference sets

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