719377004: Microcephalus with albinism and digital anomaly 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\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Skin AND/OR mucosa finding\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Skin AND/OR mucosa finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome

\Finding of limb structure\Disorder of extremity\...

\Disorder of digit\Congenital anomaly of digit\Microcephalus with albinism and digital anomaly syndrome

\Congenital anomaly of limb\Congenital anomaly of digit\Microcephalus with albinism and digital anomaly syndrome
\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome

\General finding of soft tissue\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\General finding of soft tissue\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome

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

\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus with albinism and digital anomaly syndrome

\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Finding of head region\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Finding of head region\Finding of face\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Finding of head region\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Finding of head region\Disorder of jaw\Congenital anomaly of jaw\Microcephalus with albinism and digital anomaly syndrome

\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus with albinism and digital anomaly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Microcephalus with albinism and digital anomaly syndrome
\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Microcephalus with albinism and digital anomaly syndrome

\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Eye / vision finding\Globe finding\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Eye / vision finding\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Eye / vision finding\Visual system disorder\Hereditary disorder of the visual system\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Eye / vision finding\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome

\General finding of observation of patient\Body measurement finding\Finding of head circumference\Microcephaly\Congenital microcephaly\Microcephalus with albinism and digital anomaly syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Integumentary system finding\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Integumentary system finding\Skin finding\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome

\Disease\Genetic disease\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Genetic disease\Hereditary disease\Autosomal hereditary disorder\Autosomal recessive hereditary disorder\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of pigmentation\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of pigmentation\Albinism\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the visual system\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Hereditary disorder by system\Hereditary disorder of the integument\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Skin or mucosa lesion\Lesion of skin and/or skin-associated mucous membrane\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Disorder of integument\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Visual system disorder\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Visual system disorder\Hereditary disorder of the visual system\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of body system\Visual system disorder\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of extremity\Disorder of digit\Congenital anomaly of digit\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Congenital anomaly of digit\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of extremity\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Lesion of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of head\Disorder of eye region\Disorder of eye proper\Anomaly of eye\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of head\Disorder of face\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital microcephaly\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of jaw\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of head\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of head\Disorder of jaw\Congenital anomaly of jaw\Microcephalus with albinism and digital anomaly syndrome
\Disease\Metabolic disease\Hereditary metabolic disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Congenital malformation\Albinism\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Congenital disease\Inborn error of metabolism\Albinism\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of soft tissue\Soft tissue lesion\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Genetic disorder of skin pigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue\Disorder of skin\Skin lesion\Disorder of skin pigmentation\Hypopigmentation of skin\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Developmental hereditary disorder\Albinism\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with limb defect as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of visual system\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital microcephaly\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of face\Multiple malformation syndrome with facial defects as major feature\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of jaw\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of head\Congenital anomaly of eye\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Congenital anomaly of digit\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of limb\Multiple malformation syndrome with facial-limb defects as major feature\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin\Congenital pigmentary skin anomalies\Congenital deficiency of pigment of skin\Congenital oculocutaneous hypopigmentation\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome
\Disease\Developmental disorder\Congenital malformation\Albinism\Oculocutaneous albinism\Microcephalus with albinism and digital anomaly syndrome

Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module

3315655018 Microcephalus with albinism and digital anomaly syndrome (disorder) en Fully specified name Active Entire term case insensitive SNOMED CT core module
3315656017 Microcephalus with albinism and digital anomaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3316139015 Microcephaly with albinism and digital anomaly syndrome en Synonym Active Entire term case insensitive SNOMED CT core module
3316140018 Castro Gago Pombo Novo syndrome en Synonym Active Entire term case sensitive SNOMED CT core module

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Microcephalus with albinism and digital anomaly syndrome	Is a	Microcephalus	false	Inferred relationship	Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome	Is a	Multiple malformation syndrome with facial-limb defects as major feature	true	Inferred relationship	Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome	Is a	Congenital anomaly of brain	false	Inferred relationship	Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome	Is a	Oculocutaneous albinism	true	Inferred relationship	Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome	Is a	Autosomal recessive hereditary disorder	false	Inferred relationship	Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome	Is a	Congenital anomaly of jaw	true	Inferred relationship	Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome	Is a	Hereditary disorder of nervous system	false	Inferred relationship	Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome	Is a	Congenital anomaly of digit	true	Inferred relationship	Existential restriction modifier
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	9
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	10
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	11
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	12
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	10
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	7
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier	7
Microcephalus with albinism and digital anomaly syndrome	Finding site	Jaw region structure	false	Inferred relationship	Existential restriction modifier	7
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	8
Microcephalus with albinism and digital anomaly syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	8
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Developmental anomaly	false	Inferred relationship	Existential restriction modifier	9
Microcephalus with albinism and digital anomaly syndrome	Finding site	Digit structure	false	Inferred relationship	Existential restriction modifier	9
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	11
Microcephalus with albinism and digital anomaly syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	11
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Decreased melanin pigmentation	false	Inferred relationship	Existential restriction modifier	8
Microcephalus with albinism and digital anomaly syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	8
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Congenital smallness	false	Inferred relationship	Existential restriction modifier	12
Microcephalus with albinism and digital anomaly syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	12
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	5
Microcephalus with albinism and digital anomaly syndrome	Finding site	Structure of eye proper	true	Inferred relationship	Existential restriction modifier	5
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	4
Microcephalus with albinism and digital anomaly syndrome	Finding site	Structure of eye proper	false	Inferred relationship	Existential restriction modifier	4
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Congenital hypopigmentation	false	Inferred relationship	Existential restriction modifier	4
Microcephalus with albinism and digital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	3
Microcephalus with albinism and digital anomaly syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier	4
Microcephalus with albinism and digital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	4
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	2
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	3
Microcephalus with albinism and digital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	2
Microcephalus with albinism and digital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	5
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	1
Microcephalus with albinism and digital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	1
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	1
Microcephalus with albinism and digital anomaly syndrome	Finding site	Jaw region structure	true	Inferred relationship	Existential restriction modifier	1
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Congenital smallness	true	Inferred relationship	Existential restriction modifier	2
Microcephalus with albinism and digital anomaly syndrome	Finding site	Digit structure	true	Inferred relationship	Existential restriction modifier	3
Microcephalus with albinism and digital anomaly syndrome	Finding site	Brain structure	false	Inferred relationship	Existential restriction modifier	2
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	3
Microcephalus with albinism and digital anomaly syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier	5
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier	5
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Hypopigmentation	false	Inferred relationship	Existential restriction modifier	4
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	5
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Decreased melanin pigmentation	true	Inferred relationship	Existential restriction modifier	4
Microcephalus with albinism and digital anomaly syndrome	Associated morphology	Morphologically abnormal structure	true	Inferred relationship	Existential restriction modifier	6
Microcephalus with albinism and digital anomaly syndrome	Finding site	Face structure	true	Inferred relationship	Existential restriction modifier	6
Microcephalus with albinism and digital anomaly syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier	6
Microcephalus with albinism and digital anomaly syndrome	Pathological process	Pathological developmental process	true	Inferred relationship	Existential restriction modifier	6
Microcephalus with albinism and digital anomaly syndrome	Has interpretation	Below reference range	true	Inferred relationship	Existential restriction modifier	7
Microcephalus with albinism and digital anomaly syndrome	Interprets	Birth head circumference	true	Inferred relationship	Existential restriction modifier	7
Microcephalus with albinism and digital anomaly syndrome	Finding site	Head structure	true	Inferred relationship	Existential restriction modifier	2
Microcephalus with albinism and digital anomaly syndrome	Is a	Congenital microcephaly	true	Inferred relationship	Existential restriction modifier

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Characteristic

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Id	Description	Lang	Type	Status	Case?	Module
3315655018	Microcephalus with albinism and digital anomaly syndrome (disorder)	en	Fully specified name	Active	Entire term case insensitive	SNOMED CT core module
3315656017	Microcephalus with albinism and digital anomaly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316139015	Microcephaly with albinism and digital anomaly syndrome	en	Synonym	Active	Entire term case insensitive	SNOMED CT core module
3316140018	Castro Gago Pombo Novo syndrome	en	Synonym	Active	Entire term case sensitive	SNOMED CT core module