1222658006: Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin finding\...

\Hair finding\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

\Mental state, behavior and/or psychosocial function finding\Behavior finding\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

\Central nervous system finding\Disorder of the central nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

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

\Finding of head circumference\Macrocephaly\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

\Functional finding\Cognitive function finding\Impaired cognition\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Functional finding\Cognitive function finding\Finding of intellectual ability\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Functional finding\Intelligence finding\Finding of intellectual ability\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Macrocephaly\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Hereditary disorder of nervous system\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Disorder of body system\Disorder of nervous system\Disorder of the central nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Metabolic disease\Disorder of organic acid metabolism\Disorder of amino acid metabolism\Disorder of amino acid and organic acid metabolism\Disorder of the urea cycle metabolism\Disorder of ornithine metabolism\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Congenital disease\Inborn error of metabolism\Inherited metabolic disorder of nervous system\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Disorder of skin appendage\Disorder of hair\Alopecia\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome
\Disease\Developmental disorder\Developmental delay\Global developmental delay\Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-May 2022. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

5048343014 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome en Synonym Active Entire term case insensitive SNOMED CT core module

5048344015 Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module

5048345019 Bachmann Bupp syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

5048346018 Ornithine decarboxylase deficiency en Synonym Active Entire term case insensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	Intellectual disability	true	Inferred relationship	Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	Macrocephaly	true	Inferred relationship	Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	Inherited metabolic disorder of nervous system	true	Inferred relationship	Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	Global developmental delay	true	Inferred relationship	Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	Disorder of ornithine metabolism	true	Inferred relationship	Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	Disorder of the central nervous system	true	Inferred relationship	Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	Alopecia	true	Inferred relationship	Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Is a	Multiple malformation syndrome with facial defects as major feature	true	Inferred relationship	Existential restriction modifier
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Finding site	Structure of central nervous system	true	Inferred relationship	Existential restriction modifier	4
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Interprets	Head circumference	true	Inferred relationship	Existential restriction modifier	3
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Has interpretation	Above reference range	true	Inferred relationship	Existential restriction modifier	3
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	2
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	2
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Finding site	Hair structure	true	Inferred relationship	Existential restriction modifier	1
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Associated morphology	Absence	true	Inferred relationship	Existential restriction modifier	1
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Interprets	Adaptation behavior	true	Inferred relationship	Existential restriction modifier	5
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	5
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Interprets	Intellectual ability	true	Inferred relationship	Existential restriction modifier	6
Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	Has interpretation	Impaired	true	Inferred relationship	Existential restriction modifier	6

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
5048343014	Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
5048344015	Global developmental delay, alopecia, macrocephaly, facial dysmorphism, structural brain anomalies syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
5048345019	Bachmann Bupp syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module
5048346018	Ornithine decarboxylase deficiency	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module