721073008: Short stature with webbed neck and congenital heart disease syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\Viscus structure finding (finding)\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\Finding of head and neck region\Head finding (finding)\Finding of head region\Finding of face\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of head and neck region\Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Lesion of neck\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Finding of head and neck region\Finding of neck region\Disorder of neck (disorder)\Congenital anomaly of neck\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of neck (disorder)\Lesion of neck\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of neck (disorder)\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of neck (disorder)\Congenital anomaly of neck\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of face (disorder)\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital cardiovascular disorder (disorder)\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of neck\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of soft tissue of neck\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin AND/OR subcutaneous tissue of neck (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin of neck (disorder)\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Skin lesion\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face (disorder)\Multiple malformation syndrome with facial defects as major feature\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of neck\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Neck webbing\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature with webbed neck and congenital heart disease syndrome (disorder)
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature with webbed neck and congenital heart disease syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3323365015 Al Gazali Aziz Salem syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3323367011 Short stature with webbed neck and congenital heart disease syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323368018 Short stature with webbed neck and congenital heart disease syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3323366019 This syndrome has characteristics of short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

4736791000172116 syndroom van Al Gazali-Aziz-Salem nl Synonym (core metadata concept) Active Only initial character case insensitive (core metadata concept) Belgian module (core metadata concept)

4736801000172115 syndroom van kleine gestalte, 'webbed neck' en congenitale hartafwijking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Is a	Neck webbing	true	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Is a	Congenital heart disease	true	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Is a	retard mental	false	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Is a	Short stature disorder	true	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	3
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Finding site	Heart structure	false	Inferred relationship	Some	3
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Associated morphology	Congenital webbing	false	Inferred relationship	Some	4
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	4
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Finding site	Skin structure of neck (body structure)	false	Inferred relationship	Some	4
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Associated morphology	Developmental anomaly	false	Inferred relationship	Some	5
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Occurrence	Congenital	false	Inferred relationship	Some	5
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Finding site	Face structure	false	Inferred relationship	Some	5
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Associated morphology	Congenital webbing	true	Inferred relationship	Some	3
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Finding site	Skin structure of neck (body structure)	true	Inferred relationship	Some	3
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	2
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Finding site	Heart structure	true	Inferred relationship	Some	2
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Finding site	Face structure	true	Inferred relationship	Some	1
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Interprets	Height / growth measure	true	Inferred relationship	Some	4
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	5
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	6
Short stature with webbed neck and congenital heart disease syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	6

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3323365015	Al Gazali Aziz Salem syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3323367011	Short stature with webbed neck and congenital heart disease syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323368018	Short stature with webbed neck and congenital heart disease syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3323366019	This syndrome has characteristics of short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
4736791000172116	syndroom van Al Gazali-Aziz-Salem	nl	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	Belgian module (core metadata concept)
4736801000172115	syndroom van kleine gestalte, 'webbed neck' en congenitale hartafwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)