783004003: Thin ribs, tubular bones, dysmorphism syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Finding of trunk structure\Finding of upper trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Finding of trunk structure\Finding of upper trunk\Finding of region of thorax\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Finding of trunk structure\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Finding of trunk structure\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome

\Finding of head and neck region\Head finding\...

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thin ribs, tubular bones, dysmorphism syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thin ribs, tubular bones, dysmorphism syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thin ribs, tubular bones, dysmorphism syndrome

\Musculoskeletal finding\Bone finding\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Thin ribs, tubular bones, dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Thin ribs, tubular bones, dysmorphism syndrome
\Musculoskeletal finding\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome

\Disease\Genetic disease\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of body wall\Congenital anomaly of body wall\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital skeletal dysplasia\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Disorder of bone\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Disorder of skeletal system\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of body system\Musculoskeletal disorder\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of trunk\Disorder of thoracic segment of trunk\Disorder of thorax\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of trunk\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Developmental disorder\Disorder of bone development\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of body wall\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of trunk\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of musculoskeletal structure of trunk\Congenital anomaly of thoracic cage\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital skeletal dysplasia\Thin ribs, tubular bones, dysmorphism syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of musculoskeletal system\Congenital anomaly of skeletal bone\Congenital anomaly of rib\Thin ribs, tubular bones, dysmorphism syndrome

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

Descriptions:

Id Description Lang Type Status Case? Module

3757104016 Thin ribs, tubular bones, dysmorphism syndrome en Synonym Active Case insensitive SNOMED CT core

3757105015 Thin ribs, tubular bones, dysmorphism syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3757106019 Sharma Kapoor Ramji syndrome en Synonym Active Case sensitive SNOMED CT core

3757103010 An extremely rare lethal primary bone dysplasia with characteristics of thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Thin ribs, tubular bones, dysmorphism syndrome	Finding site	Face structure	true	Inferred relationship	Some	2
Thin ribs, tubular bones, dysmorphism syndrome	Is a	Short rib dysplasia	false	Inferred relationship	Some
Thin ribs, tubular bones, dysmorphism syndrome	Finding site	Bone structure of rib	true	Inferred relationship	Some	1
Thin ribs, tubular bones, dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	1
Thin ribs, tubular bones, dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Thin ribs, tubular bones, dysmorphism syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Thin ribs, tubular bones, dysmorphism syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Thin ribs, tubular bones, dysmorphism syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Some	2
Thin ribs, tubular bones, dysmorphism syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Thin ribs, tubular bones, dysmorphism syndrome	Associated morphology	Dysplasia	true	Inferred relationship	Some	1
Thin ribs, tubular bones, dysmorphism syndrome	Is a	Congenital skeletal dysplasia	true	Inferred relationship	Some
Thin ribs, tubular bones, dysmorphism syndrome	Is a	Congenital anomaly of rib	true	Inferred relationship	Some
Thin ribs, tubular bones, dysmorphism syndrome	Is a	Genetic disease	true	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Musculoskeletal finding reference set

Problem/Diagnosis reference set

Description inactivation indicator reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3757104016	Thin ribs, tubular bones, dysmorphism syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3757105015	Thin ribs, tubular bones, dysmorphism syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3757106019	Sharma Kapoor Ramji syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3757103010	An extremely rare lethal primary bone dysplasia with characteristics of thin ribs, thin long bones, high-arched palate and facial features of frontal bossing and low-set posteriorly rotated ears. Bilateral cryptorchidism may be also observed. There have been no further descriptions in the literature since 1990.	en	Definition	Active	Case sensitive	SNOMED CT core