722453009: Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)

SNOMED CT Concept\Clinical finding\...

\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Skin AND/OR mucosa finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Chronic disease of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome

\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Mass of body structure\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Mass of body structure\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Mass of body structure\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Mass of body structure\Mass of body region\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome

\Finding of blood, lymphatics and immune system\Blood disease\...

\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hennekam Beemer syndrome

\White blood cell disorder\Hereditary white blood cell disorder\Hennekam Beemer syndrome
\White blood cell disorder\Mast cell disorder\Mast cell activation syndrome\Cutaneous mastocytosis\Hennekam Beemer syndrome
\White blood cell disorder\Mast cell disorder\Non malignant mast cell disease\Cutaneous mastocytosis\Hennekam Beemer syndrome

\Finding of general physiological development\Disorder of stature\Short stature disorder\Hennekam Beemer syndrome

\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\General finding of soft tissue\Mass of soft tissue\Neoplasm of soft tissue\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\General finding of soft tissue\Mass of soft tissue\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\General finding of soft tissue\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Chronic disease of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome

\Finding of head and neck region\Head finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Hennekam Beemer syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Hennekam Beemer syndrome
\Finding of head and neck region\Head finding\Finding of head region\Ear finding\Disorder of ear\Conductive hearing loss\Hennekam Beemer syndrome
\Finding of head and neck region\Head finding\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Hennekam Beemer syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Chronic disease of ear\Chronic deafness\Hennekam Beemer syndrome
\Finding of head and neck region\Head finding\Disorder of head\Disorder of ear\Conductive hearing loss\Hennekam Beemer syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Hennekam Beemer syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear finding\Disorder of ear\Conductive hearing loss\Hennekam Beemer syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Hennekam Beemer syndrome
\Finding of head and neck region\Ear, nose and throat finding\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Hennekam Beemer syndrome

\Ear and auditory finding\Disorder of auditory system\Auditory system hereditary disorder\Hennekam Beemer syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Hennekam Beemer syndrome
\Ear and auditory finding\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Hennekam Beemer syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Hennekam Beemer syndrome
\Ear and auditory finding\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Hennekam Beemer syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Chronic disease of ear\Chronic deafness\Hennekam Beemer syndrome
\Ear and auditory finding\Ear finding\Disorder of ear\Conductive hearing loss\Hennekam Beemer syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness\Hennekam Beemer syndrome
\Ear and auditory finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Hennekam Beemer syndrome
\Ear and auditory finding\Hearing finding\Decreased hearing\Hennekam Beemer syndrome

\Functional finding\Decline in functional status\Decreased hearing\Hennekam Beemer syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Chronic deafness\Hennekam Beemer syndrome
\Functional finding\Hearing finding\Hearing disorder\Hearing loss\Conductive hearing loss\Hennekam Beemer syndrome
\Functional finding\Hearing finding\Decreased hearing\Hennekam Beemer syndrome

\General finding of observation of patient\Body measurement finding\...

\Height / growth finding\General finding of height\Disorder of stature\Short stature disorder\Hennekam Beemer syndrome

\Finding of head circumference\Microcephaly\Congenital microcephaly\Hennekam Beemer syndrome

\Integumentary system finding\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Hennekam Beemer syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Integumentary system finding\Skin finding\Mass of skin\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Chronic disease of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hennekam Beemer syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Hennekam Beemer syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Hennekam Beemer syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Auditory system hereditary disorder\Hennekam Beemer syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Hennekam Beemer syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Hennekam Beemer syndrome
\Disease\Disorder of immune function\Chronic disease of immune function\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of immune function\Hereditary disorder of immune system\Hereditary white blood cell disorder\Hennekam Beemer syndrome
\Disease\Disorder of immune function\White blood cell disorder\Hereditary white blood cell disorder\Hennekam Beemer syndrome
\Disease\Disorder of immune function\White blood cell disorder\Mast cell disorder\Mast cell activation syndrome\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of immune function\White blood cell disorder\Mast cell disorder\Non malignant mast cell disease\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of haematopoietic morphology\Mast cell neoplasm\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Blood disease\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hennekam Beemer syndrome
\Disease\Blood disease\White blood cell disorder\Hereditary white blood cell disorder\Hennekam Beemer syndrome
\Disease\Blood disease\White blood cell disorder\Mast cell disorder\Mast cell activation syndrome\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Blood disease\White blood cell disorder\Mast cell disorder\Non malignant mast cell disease\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of haematopoietic cell type\Mast cell neoplasm\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of haematopoietic cell type\Haematologic neoplasm of uncertain behaviour\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplasm of soft tissue\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplastic disease of uncertain behaviour\Haematologic neoplasm of uncertain behaviour\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Neoplasm and/or hamartoma\Neoplastic disease\Neoplastic disease of uncertain behaviour\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of immune structure\Chronic disease of immune structure\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of immune structure\Mast cell disorder\Mast cell activation syndrome\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of immune structure\Mast cell disorder\Non malignant mast cell disease\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of haematopoietic structure\Mast cell disorder\Mast cell activation syndrome\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of haematopoietic structure\Mast cell disorder\Non malignant mast cell disease\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of cellular element of blood\Hereditary white blood cell disorder\Hennekam Beemer syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Hennekam Beemer syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of immune system\Hereditary white blood cell disorder\Hennekam Beemer syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Auditory system hereditary disorder\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of auditory system\Auditory system hereditary disorder\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Chronic deafness\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of auditory system\Hearing disorder\Hearing loss\Conductive hearing loss\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Chronic disease of ear\Chronic deafness\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of auditory system\Disorder of ear\Conductive hearing loss\Hennekam Beemer syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of integument\Neoplasm of integumentary system\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Chronic disease of ear\Chronic deafness\Hennekam Beemer syndrome
\Disease\Ear, nose and throat disorder\Disorder of ear\Conductive hearing loss\Hennekam Beemer syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Hennekam Beemer syndrome
\Disease\Disorder of head\Disorder of ear\Chronic disease of ear\Chronic deafness\Hennekam Beemer syndrome
\Disease\Disorder of head\Disorder of ear\Conductive hearing loss\Hennekam Beemer syndrome
\Disease\Congenital disease\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Hennekam Beemer syndrome
\Disease\Chronic disease\Chronic disease of immune structure\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Chronic disease\Chronic disease of immune function\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Chronic disease\Chronic disease of ear\Chronic deafness\Hennekam Beemer syndrome
\Disease\Chronic disease\Chronic disease of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Neoplasm of soft tissue\Neoplasm of uncertain behaviour of soft tissues\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Chronic disease of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Neoplasm of skin\Neoplasm of uncertain behaviour of skin\Cutaneous mastocytosis\Hennekam Beemer syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Hennekam Beemer syndrome
\Disease\Developmental disorder\Congenital anomaly\Congenital anomaly of head\Congenital microcephaly\Hennekam Beemer syndrome
\Disease\Developmental disorder\Disorder of stature\Short stature disorder\Hennekam Beemer syndrome

Status: current, Primitive. Date: 31-Jan 2017. Module: SNOMED CT core

Descriptions:

Id Description Lang Type Status Case? Module

3331859010 Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder) en Fully specified name Active Case insensitive SNOMED CT core

3331860017 Cutaneous mastocytosis, short stature, hearing loss syndrome en Synonym Active Case insensitive SNOMED CT core

3332202019 Hennekam Beemer syndrome en Synonym Active Case sensitive SNOMED CT core

3332203012 Syndrome with the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents. en Definition Active Case sensitive SNOMED CT core

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Hennekam Beemer syndrome	Finding site	Brain structure	false	Inferred relationship	Some	2
Hennekam Beemer syndrome	Pathological process	Pathological developmental process	false	Inferred relationship	Some	1
Hennekam Beemer syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Some	2
Hennekam Beemer syndrome	Associated morphology	Cutaneous mastocytosis	false	Inferred relationship	Some	1
Hennekam Beemer syndrome	Is a	Congenital anomaly of skin	false	Inferred relationship	Some
Hennekam Beemer syndrome	Occurrence	Congenital	false	Inferred relationship	Some	1
Hennekam Beemer syndrome	Occurrence	Congenital	true	Inferred relationship	Some	2
Hennekam Beemer syndrome	Finding site	Skin structure	false	Inferred relationship	Some	1
Hennekam Beemer syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Some	2
Hennekam Beemer syndrome	Pathological process	Abnormal immune process	false	Inferred relationship	Some
Hennekam Beemer syndrome	Associated morphology	Cutaneous mastocytosis	false	Inferred relationship	Some	6
Hennekam Beemer syndrome	Finding site	Skin structure	false	Inferred relationship	Some	6
Hennekam Beemer syndrome	Pathological process	Abnormal immune process	false	Inferred relationship	Some	6
Hennekam Beemer syndrome	Associated morphology	Mast cell abnormality	false	Inferred relationship	Some	6
Hennekam Beemer syndrome	Finding site	Mast cell	false	Inferred relationship	Some	6
Hennekam Beemer syndrome	Pathological process	Abnormal immune process	false	Inferred relationship	Some	7
Hennekam Beemer syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Some
Hennekam Beemer syndrome	Interprets	Height / growth measure	true	Inferred relationship	Some	8
Hennekam Beemer syndrome	Associated morphology	Cutaneous mastocytosis	true	Inferred relationship	Some	7
Hennekam Beemer syndrome	Interprets	Birth head circumference	true	Inferred relationship	Some	6
Hennekam Beemer syndrome	Associated morphology	Mast cell abnormality	true	Inferred relationship	Some	1
Hennekam Beemer syndrome	Finding site	Structure of head	true	Inferred relationship	Some	2
Hennekam Beemer syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	6
Hennekam Beemer syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Some
Hennekam Beemer syndrome	Pathological process	Abnormal immune process	true	Inferred relationship	Some	1
Hennekam Beemer syndrome	Finding site	Mast cell	true	Inferred relationship	Some	1
Hennekam Beemer syndrome	Finding site	Skin structure	true	Inferred relationship	Some	7
Hennekam Beemer syndrome	Has interpretation	Decreased	true	Inferred relationship	Some	5
Hennekam Beemer syndrome	Is a	Decreased hearing	true	Inferred relationship	Some
Hennekam Beemer syndrome	Has interpretation	Below reference range	true	Inferred relationship	Some	8
Hennekam Beemer syndrome	Is a	Chronic deafness	true	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Microcephalus	false	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Conductive hearing loss	true	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Autosomal recessive hereditary disorder	true	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Congenital hearing disorder	false	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Chronic nervous system disorder	false	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Chronic disease of ear	false	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Short stature disorder	true	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Auditory system hereditary disorder	true	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Hereditary disorder of the integument	true	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Cutaneous mastocytosis	true	Inferred relationship	Some
Hennekam Beemer syndrome	Is a	Hereditary white blood cell disorder	true	Inferred relationship	Some
Hennekam Beemer syndrome	Clinical course	Chronic	true	Inferred relationship	Some	3
Hennekam Beemer syndrome	Finding site	Ear structure	true	Inferred relationship	Some	4
Hennekam Beemer syndrome	Has definitional manifestation	Immune system finding	false	Inferred relationship	Some
Hennekam Beemer syndrome	Interprets	Hearing	true	Inferred relationship	Some	5
Hennekam Beemer syndrome	Interprets	Functional observable	false	Inferred relationship	Some
Hennekam Beemer syndrome	Occurrence	Congenital	false	Inferred relationship	Some	8
Hennekam Beemer syndrome	Occurrence	Congenital	false	Inferred relationship	Some	9
Hennekam Beemer syndrome	Associated morphology	Cutaneous mastocytosis	false	Inferred relationship	Some	8
Hennekam Beemer syndrome	Finding site	Skin structure	false	Inferred relationship	Some	8
Hennekam Beemer syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Some	9
Hennekam Beemer syndrome	Finding site	Brain structure	false	Inferred relationship	Some	9
Hennekam Beemer syndrome	Is a	Chronic brain syndrome	false	Inferred relationship	Some

Inbound Relationships

Type

Active

Source

Characteristic

Refinability

Group

Reference Sets

Australian emergency department reference set

Clinical finding foundation reference set

Neoplasm and/or hamartoma reference set

Problem/Diagnosis reference set

Back to Start

Id	Description	Lang	Type	Status	Case?	Module
3331859010	Cutaneous mastocytosis, short stature, hearing loss syndrome (disorder)	en	Fully specified name	Active	Case insensitive	SNOMED CT core
3331860017	Cutaneous mastocytosis, short stature, hearing loss syndrome	en	Synonym	Active	Case insensitive	SNOMED CT core
3332202019	Hennekam Beemer syndrome	en	Synonym	Active	Case sensitive	SNOMED CT core
3332203012	Syndrome with the association of skin mastocytosis (appearing as diffuse pigmentation), short stature, microcephaly, conductive hearing loss, and dysmorphic features. It has been described in only two (female) cases: one with normal mental development born to consanguineous parents and the other with severe psychomotor retardation born to unrelated parents.	en	Definition	Active	Case sensitive	SNOMED CT core