770941005: Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

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

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

\Hair finding\Disorder of hair\...

\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Head finding (finding)\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Head finding (finding)\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

\Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intellectual disability\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Genital finding\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Finding of trunk structure\Finding of abdominopelvic segment of trunk (finding)\Urogenital finding (finding)\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Finding of trunk structure\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\General finding of soft tissue\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy 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 appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy 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 appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy 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\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Central nervous system finding\Finding of brain\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Central nervous system finding\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

\Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intellectual disability\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intellectual disability\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Functional finding\Intelligence finding\Intellectual ability - finding\Intellectual disability\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Integumentary system finding\Skin finding\Hair finding\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of nervous system\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of foetus and/or newborn\Congenital disease (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of nervous system\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of endocrine system (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Hereditary disorder of endocrine system (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of endocrine system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy 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 appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy 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 appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy 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\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Hereditary disorder of nervous system\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of nervous system (disorder)\Disorder of the central nervous system (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of body system\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Reproductive system hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of trunk (disorder)\Disorder of abdominopelvic segment of trunk\Disorder of the genitourinary system (disorder)\Disorder of reproductive system\Disorder of endocrine gonad\Hypogonadism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Hypopituitarism\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of head (disorder)\Disorder of brain (disorder)\Disorder of pituitary gland\Disorder of anterior pituitary\Hypogonadotropic hypogonadism\Congenital hypogonadotropic hypogonadism (disorder)\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Disorder of skin appendage\Disorder of hair\Alopecia\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Developmental disorder\Neurodevelopmental disorder\Intellectual disability\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Developmental disorder\Developmental hereditary disorder\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital anomaly of hair\Congenital alopecia\Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2019. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3703539016 ANE syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3703540019 Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder) en Fully specified name Active Entire term case insensitive (core metadata concept) SNOMED CT core

3703541015 ANE (alopecia, progressive neurological defect, endocrinopathy) syndrome en Synonym (core metadata concept) Active Entire term case sensitive (core metadata concept) SNOMED CT core

3703542010 Alopecia, progressive neurological defect, endocrinopathy syndrome en Synonym (core metadata concept) Active Entire term case insensitive (core metadata concept) SNOMED CT core

3703543017 A rare genetic neuro-endocrino-cutaneous disorder with characteristics of highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, microcephaly and kyphoscoliosis. There is evidence the disease is caused by homozygous mutation in the RBM28 gene on chromosome 7q32. en Definition Active Entire term case sensitive (core metadata concept) SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	Congenital alopecia	true	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	Reproductive system hereditary disorder	true	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	Congenital hypogonadotropic hypogonadism (disorder)	true	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	1
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Associated morphology	Congenital absence (morphologic abnormality)	false	Inferred relationship	Some	1
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	Intellectual disability	true	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	3
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Finding site	Hair structure (body structure)	true	Inferred relationship	Some	1
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	Hereditary disorder of nervous system	true	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Occurrence	Congenital	true	Inferred relationship	Some	2
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	Hereditary disorder of endocrine system (disorder)	true	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Finding site	Gonadal endocrine structure	true	Inferred relationship	Some	3
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Finding site	Structure of pars distalis of pituitary (body structure)	true	Inferred relationship	Some	2
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	2
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	3
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Pathological process (attribute)	Pathological developmental process	true	Inferred relationship	Some	1
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Associated morphology	Absence (morphologic abnormality)	true	Inferred relationship	Some	1
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Interprets	Intellectual ability (observable entity)	true	Inferred relationship	Some	4
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	4
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Interprets	Adaptation behavior (observable entity)	true	Inferred relationship	Some	5
Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	Has interpretation	Impaired	true	Inferred relationship	Some	5

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
3703539016	ANE syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703540019	Alopecia, progressive neurological defect, endocrinopathy syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703541015	ANE (alopecia, progressive neurological defect, endocrinopathy) syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3703542010	Alopecia, progressive neurological defect, endocrinopathy syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3703543017	A rare genetic neuro-endocrino-cutaneous disorder with characteristics of highly variable degrees of alopecia, moderate to severe intellectual disability, progressive, late-onset motor deterioration and combined anterior pituitary hormone deficiency, manifesting with central hypogonadotropic hypogonadism, delayed or absent puberty, growth hormone deficiency (resulting in short stature), progressive central adrenal insufficiency and a hypoplastic anterior pituitary gland. Additional features include hypodontia, flexural reticulate hyperpigmentation, microcephaly and kyphoscoliosis. There is evidence the disease is caused by homozygous mutation in the RBM28 gene on chromosome 7q32.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core