Id |
Description |
Lang |
Type |
Status |
Case? |
Module |
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 |
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 |
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 |
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 |
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 |
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 |
3454951001000113 |
Marfanoider Habitus - Inguinalhernie - Beschleunigte Knochenalterung |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6397021000241112 |
syndrome marfanoïde, hernie inguinale et vieillissement osseux prématuré |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
6397021000241112 |
syndrome marfanoïde, hernie inguinale et vieillissement osseux prématuré |
fr |
Synonym (core metadata concept) |
Active |
Entire term case insensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
3454951001000113 |
Marfanoider Habitus - Inguinalhernie - Beschleunigte Knochenalterung |
de |
Synonym (core metadata concept) |
Active |
Entire term case sensitive (core metadata concept) |
SNOMED CT Switzerland NRC maintained Module |
Outbound Relationships |
Type |
Target |
Active |
Characteristic |
Refinability |
Group |
Values |
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Is a |
Marfanoid physique (finding) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Is a |
Congenital inguinal hernia (disorder) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Is a |
Multiple malformation syndrome with facial defects as major feature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Is a |
Disorder of stature |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Occurrence |
Congenital |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Associated morphology |
Morphologically abnormal structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Is a |
Congenital connective tissue disorder |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
|
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Finding site |
Face structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Finding site |
Connective tissue structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
4 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Pathological process (attribute) |
Pathological developmental process (qualifier value) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Associated morphology |
Hernial opening (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Finding site |
Structure of abdominopelvic viscus |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
3 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Associated morphology |
Herniated structure (morphologic abnormality) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Finding site |
Inguinal canal structure (body structure) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
1 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Interprets |
Physique type (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
5 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Finding site |
Organ within abdominopelvic cavity |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Finding site |
Structure of abdominopelvic cavity and/or content of abdominopelvic cavity and/or anterior abdominal wall (body structure) |
false |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Interprets |
Height / growth measure (observable entity) |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
6 |
|
Marfanoid habitus, inguinal hernia, advanced bone age syndrome (disorder) |
Finding site |
Intra-abdominopelvic structure |
true |
Inferred relationship |
Existential restriction modifier (core metadata concept) |
2 |
|