1237512003: Short stature, developmental delay, congenital heart defect syndrome (disorder)

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

\Viscus structure finding (finding)\Cardiac finding\Heart disease\...

\Structural disorder of heart\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome

\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Short stature, developmental delay, congenital heart defect syndrome

\Body measurement finding\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Short stature, developmental delay, congenital heart defect syndrome

\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, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\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\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Cardiac finding\Heart disease\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Mediastinal finding\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\Finding of trunk structure\Finding of upper trunk (finding)\Finding of region of thorax\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\Finding of trunk structure\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Short stature, developmental delay, congenital heart defect syndrome

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Short stature, developmental delay, congenital heart defect syndrome
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Short stature, developmental delay, congenital heart defect syndrome
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Short stature, developmental delay, congenital heart defect syndrome

\Cardiovascular finding\Cardiac finding\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Cardiovascular finding\Cardiac finding\Heart disease\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Short stature, developmental delay, congenital heart defect syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Cardiovascular finding\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Cardiovascular system hereditary disorder\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Cardiovascular system hereditary disorder\Short stature, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Cardiovascular system hereditary disorder\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Disorder of body system\Disorder of cardiovascular system (disorder)\Heart disease\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Structural disorder of heart\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Disorder of body system\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Congenital anomaly of thorax\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\Disease\Disorder of trunk (disorder)\Disorder of thoracic segment of trunk\Disorder of thorax (disorder)\Disorder of mediastinum (disorder)\Heart disease\Cardiac complication\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Disorder of trunk (disorder)\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Metabolic disease\Disorder of carbohydrate metabolism\Pentose disorder\Short stature, developmental delay, congenital heart defect syndrome
\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, developmental delay, congenital heart defect syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital malformation syndrome (disorder)\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Congenital disease (disorder)\Inborn error of metabolism\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome (disorder)\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of upper trunk\Congenital anomaly of thorax\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of trunk\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of cardiovascular system\Congenital anomaly of cardiovascular structure of trunk\Congenital heart disease\Short stature, developmental delay, congenital heart defect syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Short stature, developmental delay, congenital heart defect syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 30-Sep 2022. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

5099583014 Short stature, developmental delay, congenital heart defect syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

5099584015 Short stature, developmental delay, congenital heart defect syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

5099588017 TKT (transketolase) deficiency en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099586018 A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behaviour, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

5099587010 A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate). en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

13773051000172116 TKT-deficiëntie nl Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) Belgian module (core metadata concept)

13773061000172119 syndroom van kleine gestalte, ontwikkelingsachterstand en aangeboren hartafwijking nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13773071000172111 transketolasedeficiëntie nl Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) Belgian module (core metadata concept)

13773081000172114 syndroom van kleine gestalte, ontwikkelingsachterstand en congenitaal hartdefect 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, developmental delay, congenital heart defect syndrome	Is a	Intellectual disability	true	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	Congenital heart disease	true	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	Cardiovascular system hereditary disorder	true	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	Congenital malformation syndrome (disorder)	true	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	Cardiac complication	true	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	Pentose disorder	true	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Is a	Inborn error of metabolism	true	Inferred relationship	Some
Short stature, developmental delay, congenital heart defect syndrome	Due to	Deficiency of transketolase	true	Inferred relationship	Some	5
Short stature, developmental delay, congenital heart defect syndrome	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	2
Short stature, developmental delay, congenital heart defect syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	2
Short stature, developmental delay, congenital heart defect syndrome	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	3
Short stature, developmental delay, congenital heart defect syndrome	Has interpretation	Impaired	true	Inferred relationship	Some	3
Short stature, developmental delay, congenital heart defect syndrome	Interprets	Body height measure (observable entity)	true	Inferred relationship	Some	4
Short stature, developmental delay, congenital heart defect syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	4
Short stature, developmental delay, congenital heart defect syndrome	Occurrence	Congenital	true	Inferred relationship	Some	1
Short stature, developmental delay, congenital heart defect syndrome	Finding site	Heart structure	true	Inferred relationship	Some	1
Short stature, developmental delay, congenital heart defect syndrome	Associated morphology	Morphologically abnormal structure (morphologic abnormality)	true	Inferred relationship	Some	1
Short stature, developmental delay, congenital heart defect syndrome	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
5099583014	Short stature, developmental delay, congenital heart defect syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099584015	Short stature, developmental delay, congenital heart defect syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5099588017	TKT (transketolase) deficiency	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099586018	A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behaviour, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5099587010	A rare disorder of pentose phosphate metabolism with characteristics of developmental delay and intellectual disability, delayed or absent speech, short stature and congenital heart defects (such as ventricular septal defect, atrial septal defect and patent foramen ovale). Additional reported features include hypotonia, hyperactivity, stereotypic behavior, ophthalmologic abnormalities (bilateral cataract, uveitis, strabismus), hearing impairment and variable facial dysmorphism among others. Laboratory analysis shows elevated plasma and urinary polyols (erythritol, arabitol and ribitol) and urinary sugar-phosphates (ribose-5-phosphate and xylulose/ribulose-5-phosphate).	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
13773051000172116	TKT-deficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	Belgian module (core metadata concept)
13773061000172119	syndroom van kleine gestalte, ontwikkelingsachterstand en aangeboren hartafwijking	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13773071000172111	transketolasedeficiëntie	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)
13773081000172114	syndroom van kleine gestalte, ontwikkelingsachterstand en congenitaal hartdefect	nl	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	Belgian module (core metadata concept)