722281001: Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)

• SNOMED CT Concept\Clinical finding (finding)\...
• \Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...
• \Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Head finding (finding)\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Head finding (finding)\Cranial suture finding (finding)\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Head finding (finding)\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Mental state, behavior and/or psychosocial function finding (finding)\Behavior finding\Intelligenzminderung\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Body measurement finding\Finding of head circumference (finding)\Microcephaly (finding)\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \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 (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Functional finding\Cognitive function finding (finding)\Impaired cognition (finding)\Intelligenzminderung\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Functional finding\Cognitive function finding (finding)\Intellectual ability - finding\Intelligenzminderung\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Functional finding\Intelligence finding\Intellectual ability - finding\Intelligenzminderung\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Musculoskeletal finding (finding)\Joint finding\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Musculoskeletal finding (finding)\Joint finding\Cranial suture finding (finding)\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Musculoskeletal finding (finding)\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of joint region\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of joint region\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of immune function (disorder)\Hereditary disorder of immune system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of immune function (disorder)\Immunodeficiency disorder\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital immunodeficiency disease\Congenital agammaglobulinemia\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of musculoskeletal system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of immune system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Hereditary disorder of musculoskeletal system\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Lesion of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Disorder of skeletal system\Arthropathy\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of body system\Disorder of musculoskeletal system (disorder)\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body systems\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Inflammatory disorder (disorder)\Inflammation of specific body structures or tissue\Inflammation of specific body organs\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of head (disorder)\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Inflammation of skin and/or subcutaneous tissue (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Inflammatory dermatosis (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Developmental disorder (disorder)\Neurodevelopmental disorder\Intelligenzminderung\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Congenital microcephaly (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of head\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of musculoskeletal system\Congenital anomaly of joint\Imperfect fusion of skull\Craniosynostosis syndrome\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome
• \Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome

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
3331419018	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331420012	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331421011	Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
5402868011	A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402869015	A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331419018	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331419018	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331420012	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331420012	Agammaglobulinemia, microcephaly, craniosynostosis, severe dermatitis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331421011	Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
3331421011	Agammaglobulinaemia, microcephaly, craniosynostosis, severe dermatitis syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3331422016	This syndrome combines agammaglobulinemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinemia due to a defect in early B-cell maturation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3331423014	This syndrome combines agammaglobulinaemia with marked microcephaly, significant developmental delay, craniosynostosis, a severe dermatitis, cleft palate, narrowing of the choana and blepharophimosis. It has been described in three siblings, two males and one female, born to nonconsanguineous parents. Transmission is probably autosomal recessive. It has been suggested that this syndrome represents a new form of agammaglobulinaemia due to a defect in early B-cell maturation.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402868011	A rare syndromic agammaglobulinemia characterized by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
5402869015	A rare syndromic agammaglobulinaemia characterised by profound B-cell depletion (with normal T-cell numbers) resulting in agammaglobulinaemia, associated with severe developmental delay, microcephaly, craniosynostosis, cleft palate, narrowing of the choanae, blepharophimosis, and severe dermatitis. Additional reported features include distal joint contractures, renal/genitourinary anomalies, and mild cerebral atrophy, among others.	en	Definition	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
3441121001000118	Agammaglobulinämie-Mikrozephalie-Kraniosynostose-schwere Dermatitis-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6026671000241112	syndrome d'agammaglobulinémie, microcéphalie, craniosynostose et dermatite sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6026681000241114	syndrome d'agammaglobulinémie, microcéphalie, craniosynostose et dermite sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6026671000241112	syndrome d'agammaglobulinémie, microcéphalie, craniosynostose et dermatite sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
6026681000241114	syndrome d'agammaglobulinémie, microcéphalie, craniosynostose et dermite sévère	fr	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3441121001000118	Agammaglobulinämie-Mikrozephalie-Kraniosynostose-schwere Dermatitis-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module

Expanded Value Set

Reference Sets

Component annotation with string value reference set (foundation metadata concept)

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