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782780007: Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module Reference Sets
3755739013 Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3755740010 Marfanoid habitus, inguinal hernia, advanced bone age syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)
3755738017 A very rare developmental defect with connective tissue involvement disorder that has characteristics of tall stature, inguinal hernia, facial dysmorphism (including a long, triangular face, prominent forehead, telecanthus, downslanting palpebral fissures, bilateral ptosis, everted lower eyelids, large ears, long nose, full, everted vermilions, narrow and high arched palate, dental crowding), and radiologic evidence of advanced bone age. Additional manifestations include hyperextensible joints, long digits, mild muscle weakness, myopia, and foot deformities (such as hallux valgus, talipes equinovarus). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core GB English: Preferred (foundation metadata concept)

0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Occurrence Congenital true Inferred relationship Some 4
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Is a Marfanoid physique (finding) true Inferred relationship Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Is a Congenital inguinal hernia (disorder) true Inferred relationship Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Is a Multiple malformation syndrome with facial defects as major feature (disorder) true Inferred relationship Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Is a Disorder of stature true Inferred relationship Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Occurrence Congenital true Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Occurrence Congenital true Inferred relationship Some 1
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Occurrence Congenital true Inferred relationship Some 3
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 1
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Associated morphology Morphologically abnormal structure (morphologic abnormality) true Inferred relationship Some 3
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Is a Congenital connective tissue disorder true Inferred relationship Some
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Finding site Face structure true Inferred relationship Some 3
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Finding site Connective tissue structure true Inferred relationship Some 4
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 3
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Pathological process (attribute) Pathological developmental process true Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Associated morphology Hernial opening (morphologic abnormality) true Inferred relationship Some 1
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Finding site struktur indre abdominalt organ false Inferred relationship Some 3
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Associated morphology Herniated structure (morphologic abnormality) true Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Finding site Inguinal canal structure true Inferred relationship Some 1
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Interprets Physique type true Inferred relationship Some 5
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Finding site Structure of organ within abdominopelvic cavity (body structure) false Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Finding site Abdomen true Inferred relationship Some 2
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) Interprets Height / growth measure true Inferred relationship Some 6

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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