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63931000119106: Family history of Steinert myotonic dystrophy (situation)


Status: current, Sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3467660017 Family history of Steinert myotonic dystrophy (situation) en Fully specified name Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3467661018 Family history of Steinert myotonic dystrophy en Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) SNOMED CT core
3467662013 Family history of myotonic muscular dystrophy en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Family history of Steinert myotonic dystrophy (situation) Is a FH: Muscular dystrophy true Inferred relationship Some
Family history of Steinert myotonic dystrophy (situation) Is a Family history of multiple congenital anomalies (situation) false Inferred relationship Some
Family history of Steinert myotonic dystrophy (situation) Associated finding A rare genetic multi-system disorder characterised by a wide range of muscle-related manifestations (muscle weakness, myotonia, early onset cataracts before age 50) and systemic manifestations (cerebral, endocrine, cardiac, gastrointestinal tract, uterus, skin and immunologic involvement) that vary depending on the age of onset. The very wide clinical spectrum ranges from lethal presentations in infancy to mild, late-onset disease. true Inferred relationship Some 1
Family history of Steinert myotonic dystrophy (situation) Finding context (attribute) Known present (qualifier value) true Inferred relationship Some 1
Family history of Steinert myotonic dystrophy (situation) Temporal context (attribute) Current or past (actual) (qualifier value) true Inferred relationship Some 1
Family history of Steinert myotonic dystrophy (situation) Subject relationship context (attribute) Person in family of subject false Inferred relationship Some 1
Family history of Steinert myotonic dystrophy (situation) Is a FH: Cong. orthopedic anomaly false Inferred relationship Some
Family history of Steinert myotonic dystrophy (situation) Is a Family history of hereditary disease (situation) true Inferred relationship Some
Family history of Steinert myotonic dystrophy (situation) Subject relationship context (attribute) Person in the family (person) true Inferred relationship Some 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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