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


Status: current, Primitive. Date: 31-Jul 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module
3755739013 Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core
3755740010 Marfanoid habitus, inguinal hernia, advanced bone age syndrome en Synonym Active Case insensitive SNOMED CT core
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 Case sensitive SNOMED CT core


0 descendants.

Expanded Value Set


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

Inbound Relationships Type Active Source Characteristic Refinability Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Problem/Diagnosis reference set

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